No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is uncertain. Select a step to read what it means.
Uncertain.The recorded classification is uncertain significance.
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.NF2 encodes Merlin, a scaffolding protein that links the cell's internal skeleton to the cell membrane and helps regulate cell growth, adhesion, and signaling. Loss of its function promotes tumor formation and spread. Germline mutations in this gene cause neurofibromatosis type 2, an inherited condition marked by tumors of the nervous system and skin, along with eye abnormalities. It acts as a tumor suppressor, and the gene is also found mutated in other types of cancer.
The recorded framework is Not recorded. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.
The applied criteria and their strengths are shown as assessed under the stated framework.
Met (Very Strong): the nonsense variant p.(Glu260Ter) is predicted to trigger nonsense-mediated decay, consistent with a null NF2 allele.
Met (Supporting): absent from gnomAD v2.1, v4.1, and gnomAD-Canada population databases.
Met (Supporting): SpliceAI max delta 0.149 is below the ~0.2 cutoff, predicting no significant splice disruption.
VUS: conflicting evidence - PVS1 (very strong) and PM2 (supporting) for pathogenicity versus BP4 (supporting) against it - left the classification unresolved under the generic ACMG/AMP 2015 rules.
Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.
gnomAD v4.1 allele counts were not recorded for this variant.
Absent from gnomAD v2.1.
Absent from gnomAD-Canada v1.0.
Recorded SpliceAI maximum delta score: 0.149. Refer to the recorded PP3/BP4 rationale for interpretation.
A ClinVar laboratory submission summary was not recorded.
OncoKB identified variant-specific curated literature and context relevant to functional review; biological-effect context: Likely Loss-of-function; curated oncogenicity label: Likely Oncogenic.
This variant has not previously been reported in somatic cancers (COSMIC).
This variant does not lie in a statistically significant hotspot.
ACMG/AMP criteria under Not recorded, with the data and sources behind each one.
28 criteria with recorded statuses: 3 met · 3 not met · 13 not assessed · 9 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
PVS1 applied at full (Very Strong) strength using the generic ClinGen SVI PVS1 decision tree because no NF2-specific VCEP PVS1 specification was found for this case.
The variant is a nonsense change predicted to undergo NMD, truncating merlin by more than half its length, in an internal exon with no evidence of LoF tolerance or alternative splicing rescue, satisfying the top-tier generic PVS1 pathway for null variants.
This variant (NM_000268.3:c.778G>T, p.(Glu260Ter)) is a nonsense/truncating change; the case bundle contains no CSPEC/VCEP framework for NF2 and no variant-specific functional assay literature. The four retrieved PMIDs are general NF2 clinical reviews and genotype-phenotype correlation studies of truncating mutations as a class, not variant-specific functional assays, so neither PS3 nor BS3 can be applied and both are returned as not_assessed.
No governing VCEP/gene-specific PP3/BP4 lookup material exists for NF2 in this case (cspec not found, vcep_materials empty), so generic ACMG in-silico rules were applied.
Variant is a nonsense/stop-gain change (p.(Glu260Ter)); missense predictors (REVEL, BayesDel) are the wrong primary mechanism-fit and, independently, REVEL is unavailable (null) and BayesDel is not calibrated in this pipeline (no verified published threshold), so the missense in-silico path could not support either PP3 or BP4.
The splice-impact path (SpliceAI) shows a low max delta score of 0.149, below the ~0.2 cutoff generally used to flag likely splice disruption, supporting BP4 at supporting strength and precluding PP3.
BP7 (synonymous) does not apply; the variant is a nonsense substitution, not synonymous.
No NF2-specific ClinGen/VCEP framework was available in the case bundle, so generic ACMG/AMP population rules were used.
The population evidence is absence-only: it supports PM2, while it does not support BA1, BS1, or BS2.
No criteria match.
No NF2-specific ClinGen VCEP PVS1 specification is available for this case (cspec.found=false, gene_vcep_dir=null), so the generic ACMG/AMP PVS1 decision tree (ClinGen SVI recommendations, PMC6185798) was applied. NM_000268.3:c.778G>T produces NP_000259.1:p.(Glu260Ter), a nonsense variant in the NF2 transcript (consequence_class='nonsense'). Gene-level LoF mechanism was confirmed eligible for germline NF2 disease (pvs1_gene_context: lof_mechanism_supported=true, pvs1_gene_gate='eligible'), consistent with NF2-related schwannomatosis arising from biallelic/functional loss of merlin. Transcript relevance: NM_000268.3 is the reference/CCDS-linked transcript (CCDS13861.1) used for annotation, and the stop is predicted from the canonical CDS (c.1-1788, 596 aa protein). NMD prediction: exon boundaries from the transcript model place c.778 within an internal coding exon (c.676-810, well upstream of the terminal exon-exon junction at approximately c.1737/1738), i.e. more than 50 nt upstream of the last exon-exon junction, so the premature termination codon is predicted to trigger nonsense-mediated decay, consistent with a null allele. Protein length change: even absent NMD, the truncation would remove residues 260-596 (337 of 596 aa, ~57% of the protein), eliminating the C-terminal FERM-associated/tail region required for merlin function -- a substantial truncation, not a distal/non-critical loss. Exon importance/repeat-region context: exon 8 (c.676-810) is a constitutively included internal coding exon with no evidence in the gathered materials of being alternatively spliced, minimally conserved, or enriched for benign population-observed LoF variation; the variant is absent from gnomAD v2.1, v4.1, and gnomAD-Canada, arguing against this exon tolerating LoF variation in the general population. SpliceAI predicts no meaningful splice disruption (max delta 0.149, below typical actionable thresholds), so this is assessed purely as a canonical nonsense/NMD-predicted LoF variant, not a splice-altering event, avoiding double counting with splice-based evidence. No exon-skipping rescue or reinitiation evidence was identified. Taken together, this meets the ClinGen SVI generic PVS1 criteria at full (Very Strong) strength for NF2.
PVS1_generic_ClinGen_SVI_PMC6185798
PM2 is met at supporting strength under the generic ACMG/AMP fallback. NM_000268.3:c.778G>T (p.Glu260Ter) is reported absent from gnomAD v2.1, gnomAD v4.1, and gnomAD-Canada v1.0. The bundle does not provide dataset-specific allele-number or coverage metrics, so confidence is moderated and the conclusion is limited to absence in the queried datasets.
Generic ACMG/AMP PM2: absence or extremely low frequency in population databases appropriate to the disease prevalence and inheritance model supports PM2; apply at supporting strength here.
SpliceAI predicts no significant splice impact for NM_000268.3:c.778G>T, with a max delta score of 0.149 (DS_AG 0.0, DS_AL 0.149, DS_DG 0.006, DS_DL 0.035), below the ~0.2 delta-score cutoff commonly used (per the original SpliceAI validation publication) to flag a likely splicing effect. No NF2-specific VCEP PP3/BP4 lookup material is available, so this generic threshold is applied. This supports BP4 at supporting strength on the splice-impact path. The missense in-silico path (REVEL/BayesDel) is not usable to independently support or refute BP4: REVEL is not available (null) and BayesDel's 0.66 score cannot be applied because no verified published calibration threshold for BayesDel is available to this pipeline.
Generic ACMG BP4 (SpliceAI max delta score < ~0.2, based on original SpliceAI calibration thresholds), applied supporting strength; no gene-specific VCEP override present.
This variant (NM_000268.3:c.778G>T, p.(Glu260Ter)) is a nonsense/stop-gain substitution. No governing VCEP or gene-specific PP3/BP4 lookup material is available for NF2 (cspec not found; vcep_materials empty), so generic ACMG in-silico evidence rules apply. On the missense in-silico path, REVEL was not computed for this variant (revel_score = null) and BayesDel returned a score (0.66) but this pipeline has no verified published threshold/table for BayesDel, so it must be treated as not_available for calibrated PP3/BP4 use regardless of the numeric value. On the splice-impact path, SpliceAI returned a max delta score of 0.149 (DS_AG 0.0, DS_AL 0.149, DS_DG 0.006, DS_DL 0.035), which falls below the ~0.2 delta-score cutoff established in the original SpliceAI validation study for flagging a likely splice-altering effect. No computational evidence therefore reaches the threshold needed to support a deleterious/splice-disrupting effect, so PP3 is not met.
Generic ACMG PP3 (SpliceAI max delta score threshold ~0.2 from Jaganathan et al. 2019 original SpliceAI calibration); missense predictors excluded as not_available (REVEL null, BayesDel uncalibrated in this pipeline).
BA1 is not met. The variant is absent from gnomAD v2.1, gnomAD v4.1, and gnomAD-Canada v1.0; therefore no population allele frequency at or above the standalone benign threshold is documented.
Generic ACMG/AMP BA1: a population allele frequency high enough to stand alone as benign is required; no such frequency is present.
BS1 is not met. The variant is absent from the available population datasets, so there is no allele frequency greater than expected for NF2-related disease.
Generic ACMG/AMP BS1: a population frequency greater than expected for the disorder is required; the available observations do not show this.
No confirmed de novo observation is documented for NM_000268.3:c.778G>T. The case-evidence bundle contains no proband phenotype assessment, parental genotypes, confirmed maternity and paternity, or other de novo testing details. PS2 cannot be applied without documented parental testing and a phenotype consistent with NF2-related disease.
PS2 requires a confirmed de novo occurrence in the patient with confirmed maternity and paternity; phenotype consistency and reliable variant testing should be documented before applying the criterion.
No ClinGen VCEP/CSPEC framework is available for NF2 (cspec.found=false), so generic ACMG PS3 requirements apply: a validated functional assay demonstrating damaging effect, with appropriate controls, specific to this variant (NM_000268.3:c.778G>T, p.(Glu260Ter)). The four literature-packet PMIDs retrieved (19545378, 22825583, 8755919, 9643284) are all general NF2 clinical/molecular reviews or genotype-phenotype correlation studies of truncating mutations as a class; none report a variant-specific functional/biochemical assay (e.g., merlin protein activity, growth suppression, Hippo pathway signaling) for c.778G>T/p.E260*, and none of the variant's exact HGVS designations appear in the retrieved abstract snippets. No functional assay evidence for this specific variant was found in the bundle.
PS4 cannot be assessed because the case bundle contains no affected-case count, control count, case-control enrichment statistic, or variant-specific case series for NM_000268.3:c.778G>T. The available literature describes NF2 cohorts and genotype-phenotype correlations but does not report this exact variant and cannot substitute for variant-specific case-control evidence.
Generic ACMG/AMP fallback applies because no NF2-specific VCEP/CSPEC framework was retrieved. PS4 requires statistically significant enrichment of the exact variant in affected individuals compared with controls, or a qualifying variant-specific case series under an applicable specification.
No assumed or suspected de novo occurrence is documented for NM_000268.3:c.778G>T. The case-evidence bundle contains no parental testing, maternity or paternity information, proband phenotype, or case-level observation supporting PM6. PM6 cannot be applied from the absence of family information or from generic NF2 literature.
PM6 may support an assumed de novo occurrence when maternity and paternity are not confirmed, but a documented case observation and compatible phenotype are still required; absence of family data is insufficient.
No informative segregation is documented for NM_000268.3:c.778G>T. The case-evidence bundle contains no affected relatives, family genotypes, phenotype-segregation observations, or countable meioses. PP1 cannot be assigned at any strength.
PP1 supports co-segregation of the variant with disease in affected family members; strength requires an informative number of affected relatives and meioses, with phenotype and penetrance considered.
PP4 cannot be assessed because the case bundle provides no individual phenotype, clinical diagnostic criteria, or feature list for the patient carrying NM_000268.3:c.778G>T. General descriptions of NF2 phenotype specificity do not establish that this patient's phenotype is highly specific for NF2.
Generic ACMG/AMP fallback applies because no NF2-specific VCEP/CSPEC framework was retrieved. PP4 requires a patient's phenotype or highly specific clinical findings to be highly specific for the disease or phenotype associated with the gene; gene-level phenotype descriptions alone are insufficient.
PP5 is not assessable because the exact variant NM_000268.3:c.778G>T is absent from the retrieved ClinVar record and no ClinVar expert-panel Pathogenic or Likely pathogenic classification is documented. OncoKB's variant-specific label is not a ClinVar expert-panel assertion and cannot trigger PP5.
PP5 may be applied only when an exact-variant ClinVar expert panel asserts Pathogenic or Likely pathogenic. Ordinary laboratory submissions, aggregate ClinVar labels, non-expert assertions, and non-ClinVar databases do not qualify.
BS2 cannot be assessed from the case bundle. No healthy-adult cohort, unaffected homozygote observation, or phenotype-confirmed control observation for this variant is provided. Absence from population databases is not itself evidence that the variant occurs in healthy adults.
Generic ACMG/AMP BS2: observation in healthy adults, especially homozygotes for a dominant disorder, is required; no qualifying observation is available.
No ClinGen VCEP/CSPEC framework is available for NF2 (cspec.found=false). Generic ACMG BS3 requires a validated functional assay showing no damaging effect, specific to this variant. The retrieved literature packet contains only general NF2 clinical/molecular reviews and genotype-phenotype correlation studies of truncating variants as a class (PMID:19545378, PMID:22825583, PMID:8755919, PMID:9643284); none describe a functional assay result, variant-specific or otherwise, for c.778G>T/p.E260*. No functional assay evidence of a benign/neutral effect for this specific variant was found in the bundle.
No informative lack of segregation is documented for NM_000268.3:c.778G>T. The case-evidence bundle contains no unaffected relatives with reliable genotype data, no family phenotype assessments, and no information establishing that any non-carrier is sufficiently old and clinically evaluated to be informative. BS4 cannot be applied.
BS4 requires reliable lack of segregation in informative unaffected relatives; age, penetrance, phenotype assessment, and family structure must be adequate before assigning benign weight.
BP2 cannot be assessed from the available evidence. For a dominant disorder, BP2 requires observation of the variant in trans with a pathogenic variant, with appropriate phase and clinical context. The case bundle provides no second variant in the individual and no cis/trans or affected-proband phase observations for NM_000268.3:c.778G>T.
Generic ACMG/AMP BP2 may support a benign interpretation when a variant is observed in trans with a pathogenic variant in a fully penetrant dominant disorder; phase and the relevant allelic observation must be documented.
BP5 cannot be assessed because the case bundle contains no evidence that the patient's phenotype is explained by an alternative molecular cause or an alternative pathogenic variant. The absence of such evidence is not sufficient to apply BP5.
Generic ACMG/AMP fallback applies because no NF2-specific VCEP/CSPEC framework was retrieved. BP5 requires a well-supported alternative molecular cause that explains the patient's phenotype; it must not be inferred from missing information or from the variant's absence in databases.
BP6 is not assessable because the exact variant NM_000268.3:c.778G>T is absent from the retrieved ClinVar record and no ClinVar expert-panel Benign or Likely benign classification is documented. No ordinary laboratory submission, aggregate label, or non-expert assertion may trigger BP6.
BP6 may be applied only when an exact-variant ClinVar expert panel asserts Benign or Likely benign. Ordinary laboratory submissions, aggregate ClinVar labels, non-expert assertions, and non-ClinVar databases do not qualify.
PS1 (Richards et al. 2015, PMID:25741868) requires the same amino acid change as a previously established pathogenic variant, evaluated regardless of the underlying nucleotide change. NM_000268.3:c.778G>T in NF2 is a nonsense substitution introducing a premature stop codon predicted to produce NP_000259.1:p.(Glu260Ter). As a result, no altered amino acid exists at this position to compare against any previously established pathogenic missense variant, so PS1's structural prerequisite is not met by this variant class. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication, because no structured VCEP criteria-combination framework governs this case (framework_complete=false); the generic ACMG/AMP 2015 fallback applies.
deterministic_prefilter: requires_missense
PM1 (Richards et al. 2015, PMID:25741868) applies to a missense variant located in a mutational hot spot and/or a critical, well-established functional domain without benign variation. NM_000268.3:c.778G>T in NF2 is a nonsense substitution introducing a premature stop codon predicted to produce NP_000259.1:p.(Glu260Ter). As a result, no altered residue exists to evaluate for mutational hot-spot or critical-domain membership, so PM1's structural prerequisite is not met by this variant class. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication, because no structured VCEP criteria-combination framework governs this case (framework_complete=false); the generic ACMG/AMP 2015 fallback applies.
deterministic_prefilter: requires_missense
PM3 is not applicable because NF2-related schwannomatosis is described in the case evidence as an autosomal-dominant disorder; PM3 is intended for pathogenic variants observed in trans in affected individuals with a recessive disorder. The case bundle contains no recessive inheritance framework or affected-proband trans-phase observations that would make PM3 applicable.
Generic ACMG/AMP PM3 is not applicable to an autosomal-dominant NF2 disorder; PM3 requires affected individuals with pathogenic variants in trans in a recessive disease context.
PM4 (Richards et al. 2015, PMID:25741868) applies to protein length changes: in-frame insertions/deletions in a non-repetitive region, or stop-loss variants that extend the protein past the reference stop codon. NM_000268.3:c.778G>T in NF2 is a nonsense substitution introducing a premature stop codon predicted to produce NP_000259.1:p.(Glu260Ter). As a result, no change in protein length occurs, so there is nothing for this criterion to evaluate, so PM4's structural prerequisite is not met by this variant class. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication, because no structured VCEP criteria-combination framework governs this case (framework_complete=false); the generic ACMG/AMP 2015 fallback applies.
deterministic_prefilter: requires_stop_loss_or_nonrepeat_indel
PM5 (Richards et al. 2015, PMID:25741868) requires a novel missense change at an amino acid residue where a different missense change has previously been determined to be pathogenic. NM_000268.3:c.778G>T in NF2 is a nonsense substitution introducing a premature stop codon predicted to produce NP_000259.1:p.(Glu260Ter). As a result, no missense change exists at this residue to compare against a different pathogenic missense change at the same position, so PM5's structural prerequisite is not met by this variant class. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication, because no structured VCEP criteria-combination framework governs this case (framework_complete=false); the generic ACMG/AMP 2015 fallback applies.
deterministic_prefilter: requires_missense
PP2 (Richards et al. 2015, PMID:25741868) applies to a missense variant in a gene with a low rate of benign missense variation, where missense variants are a common mechanism of disease. NM_000268.3:c.778G>T in NF2 is a nonsense substitution introducing a premature stop codon predicted to produce NP_000259.1:p.(Glu260Ter). As a result, the gene's missense-constraint properties are irrelevant because no missense change is present to evaluate, so PP2's structural prerequisite is not met by this variant class. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication, because no structured VCEP criteria-combination framework governs this case (framework_complete=false); the generic ACMG/AMP 2015 fallback applies.
deterministic_prefilter: requires_missense
BP1 (Richards et al. 2015, PMID:25741868) applies to a missense variant in a gene for which primarily truncating variants are known to cause disease. NM_000268.3:c.778G>T in NF2 is a nonsense substitution introducing a premature stop codon predicted to produce NP_000259.1:p.(Glu260Ter). As a result, the gene's truncating-variant mechanism is irrelevant because no missense change is present to evaluate, so BP1's structural prerequisite is not met by this variant class. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication, because no structured VCEP criteria-combination framework governs this case (framework_complete=false); the generic ACMG/AMP 2015 fallback applies.
deterministic_prefilter: requires_missense
BP3 (Richards et al. 2015, PMID:25741868) applies to in-frame insertions/deletions located in a repetitive region without a known function. NM_000268.3:c.778G>T in NF2 is a nonsense substitution introducing a premature stop codon predicted to produce NP_000259.1:p.(Glu260Ter). As a result, the variant does not alter protein length within a repeat region, so there is nothing for this criterion to evaluate, so BP3's structural prerequisite is not met by this variant class. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication, because no structured VCEP criteria-combination framework governs this case (framework_complete=false); the generic ACMG/AMP 2015 fallback applies.
deterministic_prefilter: requires_repeat_region_indel
BP7 (Richards et al. 2015, PMID:25741868) is defined for a synonymous (silent) variant for which splicing prediction algorithms predict no impact to the splice consensus sequence and the nucleotide is not highly conserved. NM_000268.3:c.778G>T in NF2 is a nonsense substitution introducing a premature stop codon predicted to produce NP_000259.1:p.(Glu260Ter). As a result, the encoded protein sequence is altered, so the criterion's silent-variant premise does not hold regardless of any splicing prediction, so BP7's structural prerequisite is not met by this variant class. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication, because no structured VCEP criteria-combination framework governs this case (framework_complete=false); the generic ACMG/AMP 2015 fallback applies.
deterministic_prefilter: requires_synonymous
Every interpreted variant in NF2, mapped onto the exon structure of NM_000268.3. Select a row to find it on the plot.
| Protein | Location | Classification | Link |
|---|
Absent from gnomAD v4.1.
Absent from gnomAD v2.1.
Absent from gnomAD-Canada v1.0.
SpliceAI predicts no significant splice impact for NM_000268.3:c.778G>T, with a max delta score of 0.149 (DS_AG 0.0, DS_AL 0.149, DS_DG 0.006, DS_DL 0.035), below the ~0.2 delta-score cutoff commonly used (per the original SpliceAI validation publication) to flag a likely splicing effect. No NF2-specific VCEP PP3/BP4 lookup material is available, so this generic threshold is applied. This supports BP4 at supporting strength on the splice-impact path. The missense in-silico path (REVEL/BayesDel) is not usable to independently support or refute BP4: REVEL is not available (null) and BayesDel's 0.66 score cannot be applied because no verified published calibration threshold for BayesDel is available to this pipeline.
Generic ACMG BP4 (SpliceAI max delta score < ~0.2, based on original SpliceAI calibration thresholds), applied supporting strength; no gene-specific VCEP override present.
This variant (NM_000268.3:c.778G>T, p.(Glu260Ter)) is a nonsense/stop-gain substitution. No governing VCEP or gene-specific PP3/BP4 lookup material is available for NF2 (cspec not found; vcep_materials empty), so generic ACMG in-silico evidence rules apply. On the missense in-silico path, REVEL was not computed for this variant (revel_score = null) and BayesDel returned a score (0.66) but this pipeline has no verified published threshold/table for BayesDel, so it must be treated as not_available for calibrated PP3/BP4 use regardless of the numeric value. On the splice-impact path, SpliceAI returned a max delta score of 0.149 (DS_AG 0.0, DS_AL 0.149, DS_DG 0.006, DS_DL 0.035), which falls below the ~0.2 delta-score cutoff established in the original SpliceAI validation study for flagging a likely splice-altering effect. No computational evidence therefore reaches the threshold needed to support a deleterious/splice-disrupting effect, so PP3 is not met.
Generic ACMG PP3 (SpliceAI max delta score threshold ~0.2 from Jaganathan et al. 2019 original SpliceAI calibration); missense predictors excluded as not_available (REVEL null, BayesDel uncalibrated in this pipeline).
BP7 (Richards et al. 2015, PMID:25741868) is defined for a synonymous (silent) variant for which splicing prediction algorithms predict no impact to the splice consensus sequence and the nucleotide is not highly conserved. NM_000268.3:c.778G>T in NF2 is a nonsense substitution introducing a premature stop codon predicted to produce NP_000259.1:p.(Glu260Ter). As a result, the encoded protein sequence is altered, so the criterion's silent-variant premise does not hold regardless of any splicing prediction, so BP7's structural prerequisite is not met by this variant class. This determination was made deterministically from the variant's consequence class, prior to LLM adjudication, because no structured VCEP criteria-combination framework governs this case (framework_complete=false); the generic ACMG/AMP 2015 fallback applies.
deterministic_prefilter: requires_synonymous
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.15). BayesDel score = 0.66.
4 paper records listed. No publication is explicitly linked to an applied criterion in the recorded metadata. None of the listed paper records explicitly indicates that the variant is named.
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
Absent from gnomAD v4.1.
Absent from gnomAD v2.1.
Absent from gnomAD-Canada v1.0.
This variant is absent from ClinVar.
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.15). BayesDel score = 0.66.
OncoKB identified variant-specific curated literature and context relevant to functional review; biological-effect context: Likely Loss-of-function; curated oncogenicity label: Likely Oncogenic.
This variant does not lie in a statistically significant hotspot. This variant has not previously been reported in somatic cancers (COSMIC).
This variant does not lie in a statistically significant hotspot.