NF2c.316G>TPathogenic

Print report

Variant interpretation report

NF2 c.316G>T, p.(Glu106Ter)

NM_000268.3:c.316G>T NP_000259.1:p.(Glu106Ter) View identifiers

Classification

Pathogenic

Variant description:

No variant summary was recorded for this case.

Five-step scale from benign to pathogenic. This variant is pathogenic. Select a step to read what it means.

Pathogenic.A pathogenic classification under the recorded framework.

In plain language

Gene-level background from the recorded interpretation.

About NF2

No gene-level summary was recorded for this case.

Key facts

Evidence used: 1 very strong (pathogenic) · 2 moderate (pathogenic)
Expert rules: Not recorded
Pipeline record: 23 Jul 2026 · version 7.0.4

Evidence considered

View criteria

Applied evidence criteria

PVS1 (very strong): Nonsense variant NM_000268.3:c.316G>T (p.Glu106Ter) in exon 3 of 16 coding exons. Nonsense-mediated decay is expected as the premature termination codon at position 106 is >50-55 nucleotides upstream of the last exon-exon junction. NF2 loss of function is an established disease mechanism for NF2-related schwannomatosis, an autosomal dominant tumor predisposition syndrome, as demonstrated by multiple germline studies showing truncating variants as causative. No gnomAD population LoF enrichment concerns. Under ClinGen SVI PVS1 recommendations (PMC6185798), a nonsense variant in a gene with established LoF mechanism qualifies for PVS1 at very strong strength.
PM1 (moderate): Variant truncates merlin at codon 106 within the FERM domain (N-terminal, approximately residues 20-300), a well-established critical functional domain required for merlin tumor suppressor activity. The FERM domain mediates merlin's localization to the plasma membrane and cytoskeleton, and its interaction with multiple signaling partners including the Hippo pathway, mTOR, and CRL4-DCAF1. Truncation at this position removes the entire FERM domain and all downstream functional domains (coiled-coil, C-terminal), resulting in complete loss of merlin's tumor suppressor function. The FERM domain is recognized as critical in the NF2 literature and has no reported benign population variation.
PM2 (moderate): Absent from gnomAD v2.1 (exomes) and gnomAD v4.1 (exomes/genomes) with allele frequency of 0. This is well below the 0.1% threshold for PM2 application in a gene where absent/reduced population frequency supports pathogenicity. Also absent from gnomAD-Canada v1.0.

LYFE Sciences is an AI system, and it can make mistakes. Criteria may be applied incorrectly, sources may be misread, and a confident-looking classification can still be wrong. Double-check every criterion and its underlying evidence before relying on any call.

01The reasoning

How it was classified

The recorded framework is Not recorded. The criteria and strengths shown below come from the saved assessment; this page does not recalculate the classification.

Recorded applied criteria

The applied criteria and their strengths are shown as assessed under the stated framework.

Pathogenic evidence criteria: 3 Benign evidence criteria: 0

Pathogenic criteria applied · 3

PVS1Very strong

PVS1 · very strong

Nonsense variant NM_000268.3:c.316G>T (p.Glu106Ter) in exon 3 of 16 coding exons. Nonsense-mediated decay is expected as the premature termination codon at position 106 is >50-55 nucleotides upstream of the last exon-exon junction. NF2 loss of function is an established disease mechanism for NF2-related schwannomatosis, an autosomal dominant tumor predisposition syndrome, as demonstrated by multiple germline studies showing truncating variants as causative. No gnomAD population LoF enrichment concerns. Under ClinGen SVI PVS1 recommendations (PMC6185798), a nonsense variant in a gene with established LoF mechanism qualifies for PVS1 at very strong strength.

PM1Moderate

PM1 · moderate

Variant truncates merlin at codon 106 within the FERM domain (N-terminal, approximately residues 20-300), a well-established critical functional domain required for merlin tumor suppressor activity. The FERM domain mediates merlin's localization to the plasma membrane and cytoskeleton, and its interaction with multiple signaling partners including the Hippo pathway, mTOR, and CRL4-DCAF1. Truncation at this position removes the entire FERM domain and all downstream functional domains (coiled-coil, C-terminal), resulting in complete loss of merlin's tumor suppressor function. The FERM domain is recognized as critical in the NF2 literature and has no reported benign population variation.

PM2Moderate

PM2 · moderate

Absent from gnomAD v2.1 (exomes) and gnomAD v4.1 (exomes/genomes) with allele frequency of 0. This is well below the 0.1% threshold for PM2 application in a gene where absent/reduced population frequency supports pathogenicity. Also absent from gnomAD-Canada v1.0.

Benign criteria applied · 0

No benign criterion marked as applied in the recorded assessment.

Recorded classification: Pathogenic

gene-specific framework lacked a usable explicit final combination framework, so generic ACMG/AMP 2015 final-combination rules were applied as fallback; applied criteria: PVS1 very strong, PM1 moderate, PM2 moderate; combination = 1 very strong + 2 moderate, which maps to Pathogenic.

02The sources

Evidence at a glance

Evidence summaries and captured source records, where available. Missing entries should not be interpreted as negative findings.

gnomAD v4.1

gnomAD v2.1

Population frequency

Not recorded

gnomAD v4.1 allele counts were not recorded for this variant.

gnomAD v2.1

Absent from gnomAD v2.1.

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

Applied · PM2 →

gnomAD v4.1 ↗gnomAD v2.1 ↗gnomAD-Canada ↗

SpliceAI score

0.180 maximum delta

Recorded SpliceAI maximum delta score: 0.180. Refer to the recorded PP3/BP4 rationale for interpretation.

No listed criterion applied SpliceAI ↗

ClinVar submissions

Not recorded

A ClinVar laboratory submission summary was not recorded. ClinVar API review status: criteria provided, single submitter.

Context only ClinVar ↗

Functional evidence

Statement 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.

No listed criterion applied OncoKB ↗

COSMIC

Cancer Hotspots

Somatic evidence

2 recorded samples

This variant has previously been reported in somatic cancers (COSMIC; COSV58532625, n = 2 times).

Cancer Hotspots

This variant does not lie in a statistically significant hotspot.

Context only

COSMIC ↗Cancer Hotspots ↗

For specialists

Technical detail

ACMG/AMP criteria under Not recorded, with the data and sources behind each one.

26 criteria with recorded statuses: 3 met · 8 not met · 7 not assessed · 8 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.

Pathogenic

PVS1 PS1 PS2 PS3 PS4 PM1 PM2 PM5 PM6 PP1 PP2 PP3 PP4 PP5 PS5

Benign

BA1 BS1 BS2 BS3 BS4 BP1 BP2 BP4 BP5 BP6 BP7

Met Not met Not assessed Not applicable

NM_000268.3:c.316G>T (p.Glu106Ter) is a nonsense variant in exon 3 of the NF2 gene, predicted to undergo nonsense-mediated decay and result in complete loss of merlin protein expression.

NF2 loss of function is an established disease mechanism for NF2-related schwannomatosis, an autosomal dominant tumor predisposition syndrome characterized by bilateral vestibular schwannomas, meningiomas, and spinal tumors.

This variant is absent from gnomAD v2.1 and v4.1 population databases, supporting its rarity and consistent with a pathogenic role in a rare disease.

The variant truncates merlin within the FERM domain (codon 106), a well-established critical functional domain required for membrane localization, cytoskeletal organization, and tumor suppressor signaling through the Hippo, mTOR, and CRL4-DCAF1 pathways.

Under ACMG/AMP 2015 combination rules (PMID:25741868), one very strong criterion (PVS1) plus two moderate criteria (PM1, PM2) meets the threshold for a pathogenic classification.

Met · 3

PVS1 Very strongNonsense variant NM_000268.3:c.316G>T (p.Glu106Ter) in exon 3 of 16 coding exons. Nonsense-mediated decay is expected as the premature termination codon at position 106 is >50-55 nucleotides upstream of the last exon-exon junction. NF2 loss of function is an established disease mechanism for NF2-related schwannomatosis, an autosomal dominant tumor predisposition syndrome, as demonstrated by multiple germline studies showing truncating variants as causative. No gnomAD population LoF enrichment concerns. Under ClinGen SVI PVS1 recommendations (PMC6185798), a nonsense variant in a gene with established LoF mechanism qualifies for PVS1 at very strong strength. Details ▾Hide ▴

Evidence considered

Nonsense variant (p.Glu106Ter) in exon 3/16
NMD expected
NF2 loss of function is an established germline disease mechanism for NF2-related schwannomatosis (autosomal dominant)
Absent from gnomAD v2.1 and v4.1
no population LoF enrichment concerns
Transcript NM_000268.3 is the clinically relevant RefSeq transcript

Sources

pvs1_generic_framework ↗pvs1_gene_contextpvs1_variant_assessmentPMID:19545378 ↗gnomad_v2 ↗gnomad_v4 ↗

PM1 ModerateVariant truncates merlin at codon 106 within the FERM domain (N-terminal, approximately residues 20-300), a well-established critical functional domain required for merlin tumor suppressor activity. The FERM domain mediates merlin's localization to the plasma membrane and cytoskeleton, and its interaction with multiple signaling partners including the Hippo pathway, mTOR, and CRL4-DCAF1. Truncation at this position removes the entire FERM domain and all downstream functional domains (coiled-coil, C-terminal), resulting in complete loss of merlin's tumor suppressor function. The FERM domain is recognized as critical in the NF2 literature and has no reported benign population variation. Details ▾Hide ▴

Evidence considered

Merlin/NF2 is a FERM domain protein (PMID:22825583)
The FERM domain is critical for merlin tumor suppressor function including plasma membrane localization
cytoskeletal organization
and regulation of mitogenic signaling pathways
Truncation at codon 106 removes the entire FERM domain and all downstream domains
resulting in complete loss of function
NF2 is a well-characterized tumor suppressor gene where truncating mutations in critical domains are established as pathogenic (PMID:19545378)

Sources

PMID:22825583 ↗PMID:19545378 ↗

PM2 ModerateAbsent from gnomAD v2.1 (exomes) and gnomAD v4.1 (exomes/genomes) with allele frequency of 0. This is well below the 0.1% threshold for PM2 application in a gene where absent/reduced population frequency supports pathogenicity. Also absent from gnomAD-Canada v1.0. Details ▾Hide ▴

Evidence considered

Absent from gnomAD v2.1 (AF=0)
Absent from gnomAD v4.1 (AF=0)
Absent from gnomAD-Canada v1.0

Sources

gnomad_v2 ↗gnomad_v4 ↗gnomad_canada ↗

Not met · 8 · evaluated, threshold not reached

PS3 No variant-specific functional data exists for NM_000268.3:c.316G>T in the reviewed literature. OncoKB annotates this variant as Likely Loss-of-function, but this is a curated inference from the variant type (nonsense), not experimental functional evidence. None of the nine reviewed publications tested this variant or a systematically characterized range that includes codon 106. Domain-level inference from FERM domain characterization supports PM1, not PS3. Details ▾Hide ▴

Evidence considered

OncoKB LOF annotation is a curated inference from variant type
not experimental functional data
No publication tested c.316G>T or systematically characterized a range including codon 106

Still missing

No experimental functional data for this variant

PS4 No case observations of this variant in affected individuals beyond the single ClinVar submission (Variation ID 3257850). Submission details could not be extracted and no patient counts are available. The reviewed literature does not report this variant in any NF2 patient cohort. Details ▾Hide ▴

Evidence considered

ClinVar Variation ID 3257850: Likely oncogenic
single submitter
submissions not extractable
No literature reports of this variant in affected individuals

Still missing

No patient case data available beyond non-extractable ClinVar submission

Sources

clinvar ↗

PP5 ClinVar Variation ID 3257850 has a classification of 'Likely oncogenic' with review status 'criteria provided, single submitter' (1-star). Under the PP5 rule requiring ClinVar 3-star expert panel classification for application at supporting strength, this single-submitter somatic oncogenicity classification does not meet the threshold for PP5. The ClinVar PMIDs associated with this record (19910496, 22918138, 23619274, 34131312, 35101336) do not mention c.316G>T in their abstracts or full texts. Details ▾Hide ▴

Evidence considered

ClinVar Variation ID 3257850: Likely oncogenic
criteria provided single submitter (1-star)
Does not meet 3-star expert panel threshold for PP5
Associated ClinVar PMIDs do not mention c.316G>T (verified)

Sources

clinvar ↗

BA1 Absent from gnomAD v2.1 and v4.1. Allele frequency of 0 is far below the 1% threshold for BA1. Population frequency evidence supports absence from controls rather than presence as a common polymorphism. Details ▾Hide ▴

Evidence considered

Absent from gnomAD v2.1 (AF=0)
Absent from gnomAD v4.1 (AF=0)
Far below BA1 threshold of 1%

Sources

gnomad_v2 ↗gnomad_v4 ↗

BS1 Absent from gnomAD v2.1 and v4.1. Allele frequency of 0 is far below the 0.3% threshold for BS1. Population frequency evidence supports absence from controls. Details ▾Hide ▴

Evidence considered

Absent from gnomAD v2.1 (AF=0)
Absent from gnomAD v4.1 (AF=0)
Far below BS1 threshold of 0.3%

Sources

gnomad_v2 ↗gnomad_v4 ↗

BS3 No well-established functional studies demonstrate a benign effect for this variant. No experimental data exists for c.316G>T in the reviewed literature. The absence of functional studies showing a benign effect does not constitute evidence for BS3. Details ▾Hide ▴

Evidence considered

No functional studies demonstrate benign effect for c.316G>T
OncoKB annotation is Likely Loss-of-function
inconsistent with benign interpretation

Still missing

No functional data exists for this variant

BP4 BayesDel score of 0.66 supports a deleterious prediction, which is inconsistent with BP4 (multiple lines of computational evidence suggest no impact). SpliceAI max delta of 0.18 shows no significant splice impact, but the overall in silico evidence does not support a benign interpretation. Details ▾Hide ▴

Evidence considered

BayesDel score 0.66 (deleterious) — inconsistent with benign prediction
SpliceAI max delta 0.18 (no significant splice impact
but insufficient for BP4)

Sources

bayesdelspliceai ↗

BP6 No reputable source classifies this variant as benign or likely benign. ClinVar classifies this as 'Likely oncogenic' (somatic classification). OncoKB classifies as 'Likely Oncogenic.' No evidence supports BP6. Details ▾Hide ▴

Evidence considered

ClinVar: Likely oncogenic (not benign)
OncoKB: Likely Oncogenic (not benign)

Sources

clinvar ↗oncokb ↗

Not assessed · 7 · no assessment recorded

PS2 No de novo data available for this variant. No case reports or family studies in the reviewed literature identify de novo occurrence of c.316G>T with confirmed paternity. Details ▾Hide ▴

Still missing

No de novo data available for this variant

PM6 No de novo data available. PM6 requires a de novo observation without confirmation of paternity. No publications report a de novo occurrence of c.316G>T. Details ▾Hide ▴

Still missing

No de novo data available

PP1 No segregation data available. PP1 requires cosegregation with disease in multiple affected family members. No family studies or segregation data for this variant were identified in the reviewed literature. Details ▾Hide ▴

Still missing

No segregation data available

PP4 No patient phenotype data provided. PP4 requires that the patient's phenotype or family history is highly specific for a disease with a single genetic etiology. No clinical information about the proband is available in the case materials. Details ▾Hide ▴

Still missing

No patient phenotype or family history available

BS2 No data available on homozygous observations or observations in trans with a known pathogenic variant. NF2-related schwannomatosis is an autosomal dominant disorder; homozygous or biallelic observations would not be expected in healthy adults. Not assessed due to lack of data. Details ▾Hide ▴

Still missing

No homozygous or trans observation data available

BS4 No segregation data available. BS4 requires lack of segregation in affected family members. No family studies for this variant were identified in the reviewed literature. Details ▾Hide ▴

Still missing

No segregation data available

BP5 No data available on an alternative molecular basis for disease in a case with this variant. No case reports in the reviewed literature describe an individual harboring c.316G>T alongside a confirmed alternative molecular diagnosis. Details ▾Hide ▴

Still missing

No data on alternative molecular basis in cases with this variant

Not applicable · 8· recorded as not applicable Show reasons ▾Hide reasons ▴

PS1 N/APS1 applies to missense variants where a different nucleotide change produces the same amino acid substitution as a known pathogenic variant. This is a nonsense variant and the mechanism is not applicable. Details ▾Hide ▴

No further detail was recorded.

PM5 N/ANonsense variant. PM5 applies when a different missense change at the same residue has been established as pathogenic. For a truncating variant, same-residue missense comparators are not relevant to the variant's mechanism. No same-residue pathogenic missense candidates were identified by automated harvesting. Details ▾Hide ▴

Evidence considered

Nonsense variant — same-residue missense comparators not applicable

PP2 N/APP2 applies to missense variants in a gene where missense variants are a common mechanism of disease and the gene has a low rate of benign missense variation. This is a nonsense (truncating) variant, not a missense change. Details ▾Hide ▴

No further detail was recorded.

PP3 N/AFor a nonsense variant predicted to undergo NMD and already meeting PVS1 at very strong strength, in silico prediction tools do not provide independent evidence beyond the null effect already captured by PVS1. BayesDel score of 0.66 is consistent with a deleterious prediction but does not add independent weight. SpliceAI max delta of 0.18 indicates no significant splice impact. PP3 is not applied to nonsense variants under standard interpretation to avoid double-counting with PVS1. Details ▾Hide ▴

Evidence considered

BayesDel score 0.66 (deleterious) — consistent with PVS1 null effect
SpliceAI max delta 0.18 (no significant splice impact)

Sources

spliceai ↗bayesdel

BP1 N/ABP1 applies to missense variants in a gene where primarily truncating variants cause disease. This is a nonsense (truncating) variant and BP1 is not applicable. Details ▾Hide ▴

No further detail was recorded.

BP2 N/ABP2 applies to observations in trans with a pathogenic variant for a fully penetrant recessive disorder. NF2-related schwannomatosis is an autosomal dominant disorder; BP2 is not applicable. Details ▾Hide ▴

No further detail was recorded.

BP7 N/ABP7 applies to synonymous variants where splicing prediction algorithms predict no impact on the splice consensus sequence or a cryptic splice site. This is a nonsense (stop-gain) variant and BP7 is not applicable. Details ▾Hide ▴

No further detail was recorded.

PS5 N/APS5 is not a criterion defined in the ACMG/AMP 2015 guidelines (PMID:25741868). It is used in certain somatic/VCEP frameworks but is not applicable under the generic ACMG/AMP framework. Details ▾Hide ▴

No further detail was recorded.

Identifiers

Gene: NF2
Transcript: NM_000268.3
Coding (HGVS c.): NM_000268.3:c.316G>T
Protein (HGVS p.): NP_000259.1:p.(Glu106Ter)
GRCh38: chr22:29639165 G>T
GRCh37: chr22:30035154 G>T
ClinVar: 3257850
COSMIC: COSV58532625

Gene diagram

Every interpreted variant in NF2, mapped onto the exon structure of NM_000268.3. Select a row to find it on the plot.

NF2NM_000268.3

Fetching transcript structure from UCSC…

Exons

—

Transcript span

—

Strand

—

Variants mapped

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Source

UCSC ncbiRefSeqCurated

All variants in NF2 — Select a row to find it on the plot; use the link to open its page.

	Protein	Location	Classification	Link

gnomAD v4.1 Allele count data not recorded

gnomAD v2.1 Allele count data not recorded

gnomAD-Canada v1.0 Allele count data not recorded

Statements

gnomAD v4.1

Absent from gnomAD v4.1.

gnomAD v2.1

Absent from gnomAD v2.1.

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

SpliceAI and Pangolin

SpliceAI acceptor lossat -75 bp

0.150

SpliceAI acceptor gainat +48 bp

0.090

SpliceAI donor lossat +47 bp

0.130

SpliceAI donor gainat +166 bp

0.180

Pangolin splice lossmagnitude shown

-0.410

Pangolin splice gain

0.180

Other predictors

REVEL: Not available
BayesDel: 0.660

How the predictions were used

Evidence considered

BayesDel score 0.66 (deleterious) — inconsistent with benign prediction
SpliceAI max delta 0.18 (no significant splice impact
but insufficient for BP4)

Sources

bayesdelspliceai ↗

Evidence considered

BayesDel score 0.66 (deleterious) — consistent with PVS1 null effect
SpliceAI max delta 0.18 (no significant splice impact)

Sources

spliceai ↗bayesdel

No further detail was recorded.

Statement

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.18). BayesDel score = 0.66.

9 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.

Recorded publications

Neurofibromatosis type 2 (NF2): a clinical and molecular review.

Comprehensive clinical and molecular review of neurofibromatosis type 2. Describes NF2 as an autosomal dominant tumor predisposition disorder caused by truncating mutations (nonsense, frameshift) in the NF2 gene, with nonsense mutations being among the most common. NM_000268.3:c.316G>T (p.Glu106Ter) was not specifically mentioned.
Does not name this variant
PMID 19545378 ↗
Quoted passage
C > T transitions leading to a nonsense mutation are the most common mutations in the NF2 gene
Full-text review — variant not found
New strategies in pleural mesothelioma: BAP1 and NF2 as novel targets for therapeutic development and risk assessment.

Review of NF2 and BAP1 as therapeutic targets in malignant pleural mesothelioma. Describes merlin as a FERM domain protein and discusses the role of NF2 loss in mTOR pathway activation. NM_000268.3:c.316G>T (p.Glu106Ter) was not specifically mentioned.
Does not name this variant
PMID 22825583 ↗
Quoted passage
NF2 ... encodes for the FERM domain protein Merlin
Full-text review — variant not found
Type of mutation in the neurofibromatosis type 2 gene (NF2) frequently determines severity of disease.

Genotype-phenotype study of NF2 mutation types and their association with disease severity. Reports that truncating mutations are associated with more severe clinical presentation. NM_000268.3:c.316G>T (p.Glu106Ter) was not specifically mentioned in the abstract.
Does not name this variant
PMID 8755919 ↗
Genotype/phenotype correlations in type 2 neurofibromatosis (NF2): evidence for more severe disease associated with truncating mutations.

Genotype-phenotype correlation study of 125 NF2 families confirming that truncating mutations are associated with more severe disease. NM_000268.3:c.316G>T (p.Glu106Ter) was not specifically mentioned in the abstract.
Does not name this variant
PMID 9643284 ↗
Tumor-suppression functions of merlin are independent of its role as an organizer of the actin cytoskeleton in Schwann cells.

Lallemand D et al. · 2009

Functional study of merlin tumor-suppression mechanisms in Schwann cells, demonstrating that merlin's tumor suppressor function is independent of its role in actin cytoskeleton organization. NM_000268.3:c.316G>T (p.Glu106Ter) was not specifically mentioned in the abstract.
Does not name this variant
PMID 19910496 ↗
Standards for the classification of pathogenicity of somatic variants in cancer (oncogenicity): Joint recommendations of Clinical Genome Resource (ClinGen), Cancer Genomics Consortium (CGC), and Variant Interpretation for Cancer Consortium (VICC).

Horak P et al. · 2022

Joint ClinGen/CGC/VICC consensus recommendations for somatic variant oncogenicity classification. Provides standards for classifying somatic variants in cancer but does not mention NM_000268.3:c.316G>T (p.Glu106Ter).
Does not name this variant
PMID 35101336 ↗
Opportunities and challenges associated with clinical diagnostic genome sequencing: a report of the Association for Molecular Pathology.

Schrijver I et al. · 2012

Association for Molecular Pathology report on opportunities and challenges of clinical diagnostic genome sequencing. General technical guidance; does not mention NF2 or NM_000268.3:c.316G>T.
Does not name this variant
PMID 22918138 ↗
Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).

Shao L et al. · 2021

ACMG technical standard for chromosomal microarray analysis in constitutional and neoplastic disease. General laboratory guidance; does not mention NF2 or NM_000268.3:c.316G>T.
Does not name this variant
PMID 34131312 ↗
American College of Medical Genetics and Genomics technical standards and guidelines: microarray analysis for chromosome abnormalities in neoplastic disorders.

Cooley LD et al. · 2013

ACMG technical standards and guidelines for microarray analysis of chromosome abnormalities in neoplastic disorders. General laboratory guidance; does not mention NF2 or NM_000268.3:c.316G>T.
Does not name this variant
PMID 23619274 ↗

Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.

gnomAD v4.1 Captured gnomAD v4.1 source record Open source ↗

gnomAD v2.1 Captured gnomAD v2.1 source record Open source ↗

SpliceAI Lookup Recorded maximum delta 0.180 Open source ↗

ClinVar Captured ClinVar source record Open source ↗

COSMIC Captured COSMIC source record Open source ↗

Cancer hotspots Captured Cancer Hotspots source record Open source ↗

OncoKB Captured OncoKB source record Open source ↗

All source links

Statements for reports

The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.

gnomAD v4.1

Absent from gnomAD v4.1.

gnomAD v2.1

Absent from gnomAD v2.1.

gnomAD-Canada

Absent from gnomAD-Canada v1.0.

ClinVar

This variant has been reported in ClinVar but submission details could not be extracted. (ClinVarID = 3257850)

In silico

SpliceAI predicts no significant splice impact for this variant (max delta score = 0.18). BayesDel score = 0.66.

Functional

OncoKB identified variant-specific curated literature and context relevant to functional review; biological-effect context: Likely Loss-of-function; curated oncogenicity label: Likely Oncogenic.

Somatic

This variant does not lie in a statistically significant hotspot. This variant has previously been reported in somatic cancers (COSMIC; COSV58532625, n = 2 times).

Cancer Hotspots

This variant does not lie in a statistically significant hotspot.