About BRCA2
No gene-level summary was recorded for this case.
Previous versions
Variant interpretation report
BRCA2 c.7992T>A, p.(Ile2664=)
Classification
Likely benign
Variant description:
No variant summary was recorded for this case.
Five-step scale from benign to pathogenic. This variant is likely benign. Select a step to read what it means.
Likely benign.A likely benign classification under the recorded framework.
In plain language
Gene-level background from the recorded interpretation.
Words with a dotted underline have a short definition. Hover or tap them.
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 ClinGen BRCA2 VCEP v1.2.0. 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: 0
Benign evidence criteria: 4
Pathogenic criteria applied · 0
No pathogenic criterion marked as applied in the recorded assessment.
Benign criteria applied · 4
BS1Supporting
BS1 · supporting
This variant meets BRCA2 ENIGMA BS1 at supporting strength because the gnomAD v2.1 grpmax filter allele frequency is 3.433e-05, which is above the BS1 Supporting threshold of 2.0e-05 and at or below the upper BS1 boundary of 1.0e-04. The highest observed population is European (non-Finnish).
BP4Supporting
BP4 · supporting
This synonymous variant lies within the BRCA2 DNA-binding domain and SpliceAI predicts no significant splice impact, with a maximum delta score of 0.02, which is below the BRCA2 ENIGMA BP4 threshold of 0.1. REVEL and BayesDel scores were not available, but they are not required for this silent-variant BP4 rule.
BP6Supporting
BP6 · supporting
Expert panel Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) classified as Likely benign.
BP7Supporting
BP7 · supporting
This synonymous variant is located within the BRCA2 DNA-binding domain and also meets BP4 because SpliceAI predicts no significant splice impact, with a maximum delta score of 0.02. Under the BRCA2 ENIGMA rule, a silent variant inside a clinically important functional domain can receive BP7 at supporting strength when BP4 is met.
Recorded classification: Likely benign
ENIGMA BRCA1/BRCA2 Specification v1.2 Table 3 final-classification framework
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
59 / 1,613,670 alleles
gnomAD v4.1: 59 / 1,613,670 alleles. Recorded AF 3.65626e-05. Recorded homozygote count 0.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.19412e-05; MAF= 0.00319%, 8/250460 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 7.06801e-05; MAF= 0.00707%, 8/113186 alleles, homozygotes = 0); grpmax FAF= 3.433e-05.
SpliceAI score
0.020 maximum delta
Recorded SpliceAI maximum delta score: 0.020. Refer to the recorded PP3/BP4 rationale for interpretation.
ClinVar submissions
15 reported laboratory submissions
10 Likely benign · 4 Uncertain significance · 1 Benign.
Functional evidence
Statement recorded
OncoKB identified curated literature and non-variant-specific oncogenicity context for review; listed oncogenicity label: Unknown Oncogenic Effect.
No listed criterion applied
OncoKB ↗
COSMIC
Cancer Hotspots
Somatic evidence
No matching record reported
This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.
Context only
For specialists
Technical detail
ACMG/AMP criteria under ClinGen BRCA2 VCEP v1.2.0, with the data and sources behind each one.
28 criteria with recorded statuses: 4 met · 5 not met · 10 not assessed · 9 not applicable. Open any row for the full reasoning, the rule and the evidence behind it.
Met
Not met
Not assessed
Not applicable
The BRCA2 c.7992T>A (p.Ile2664=) variant has been reported in ClinVar, including a likely benign expert panel classification from ENIGMA and multiple likely benign clinical laboratory submissions.
In population databases, the variant is present at low frequency; in gnomAD v2.1 the grpmax filter allele frequency is 3.433e-05, which exceeds the BRCA2 ENIGMA BS1 Supporting threshold of 2.0e-05, and gnomAD v4.1 shows a consistent low-frequency signal with grpmax filter allele frequency 3.666e-05.
SpliceAI predicts no significant splice effect with a maximum delta score of 0.02, which is below the BRCA2 ENIGMA BP4/BP7 threshold of 0.1 and below the PP3 threshold of 0.2, supporting BP4 and BP7 rather than a deleterious splicing prediction.
No criteria match.
Met · 4
BS1 SupportingThis variant meets BRCA2 ENIGMA BS1 at supporting strength because the gnomAD v2.1 grpmax filter allele frequency is 3.433e-05, which is above the BS1 Supporting threshold of 2.0e-05 and at or below the upper BS1 boundary of 1.0e-04. The highest observed population is European (non-Finnish). Details ▾Hide ▴
Rule
BRCA2 ENIGMA BS1_Supporting: FAF >0.00002 and ≤0.0001.
Evidence considered
- gnomAD v2.1 grpmax FAF 3.433e-05
- population context in European non-Finnish samples
Sources
BP4 SupportingThis synonymous variant lies within the BRCA2 DNA-binding domain and SpliceAI predicts no significant splice impact, with a maximum delta score of 0.02, which is below the BRCA2 ENIGMA BP4 threshold of 0.1. REVEL and BayesDel scores were not available, but they are not required for this silent-variant BP4 rule. Details ▾Hide ▴
Rule
BRCA2 ENIGMA BP4_Supporting applies to a silent variant inside a clinically important domain if SpliceAI ≤0.1.
Evidence considered
- SpliceAI max delta 0.02
- BRCA2 DNA-binding domain rule for silent variants
Sources
BP6 SupportingExpert panel Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) classified as Likely benign. Details ▾Hide ▴
BP7 SupportingThis synonymous variant is located within the BRCA2 DNA-binding domain and also meets BP4 because SpliceAI predicts no significant splice impact, with a maximum delta score of 0.02. Under the BRCA2 ENIGMA rule, a silent variant inside a clinically important functional domain can receive BP7 at supporting strength when BP4 is met. Details ▾Hide ▴
Rule
BRCA2 ENIGMA BP7_Supporting applies to a silent variant inside a clinically important domain if BP4 is met.
Evidence considered
- SpliceAI max delta 0.02
- BP4 prerequisite satisfied for silent variant in domain
Sources
Not met · 5 · evaluated, threshold not reached
PVS1 This synonymous variant does not create a premature termination codon, frameshift, or canonical ±1,2 splice-site change, and no RNA assay evidence was identified to support a PVS1(RNA) application. Details ▾Hide ▴
Rule
BRCA2 ENIGMA PVS1 applies to null variants or qualifying RNA evidence; this variant does not meet those entry conditions.
Evidence considered
- BRCA2 VCEP PVS1 framework eligibility
- generic PVS1 scaffold for variant type
Sources
PM2 This variant is present in population databases and therefore is not absent from controls. In gnomAD v2.1 the total allele frequency is 3.19e-05 (8/250460) and in gnomAD v4.1 the total allele frequency is 3.66e-05 (59/1613670). Details ▾Hide ▴
Rule
PM2_Supporting requires absence from controls in the specified gnomAD datasets.
Evidence considered
- gnomAD v2.1 population frequency
- gnomAD v4.1 population frequency
Sources
PP3 Computational evidence does not support a deleterious effect. SpliceAI predicts no significant splice impact with a maximum delta score of 0.02, which is below the BRCA2 ENIGMA PP3 threshold of 0.2. REVEL and BayesDel scores were not available for this synonymous change. Details ▾Hide ▴
Rule
For silent variants, BRCA2 ENIGMA PP3 requires SpliceAI ≥0.2.
Evidence considered
- SpliceAI max delta 0.02
- BRCA2 ENIGMA PP3 threshold review
Sources
BA1 The observed population frequency is below the BRCA2 ENIGMA BA1 threshold. In gnomAD v2.1, grpmax filter allele frequency is 3.433e-05, which is below the BA1 cutoff of 0.001. Details ▾Hide ▴
Rule
BA1 requires FAF >0.001 in the specified gnomAD dataset(s).
Evidence considered
- gnomAD v2.1 grpmax FAF 3.433e-05
Sources
BP1 This synonymous variant is located at codon 2664 within the BRCA2 DNA-binding domain (aa 2481-3186), so it does not meet the BRCA2 ENIGMA BP1 rule for silent or missense variants outside clinically important functional domains. Details ▾Hide ▴
Rule
BRCA2 ENIGMA BP1_Strong requires a silent or missense variant outside clinically important functional domains with no predicted splice impact.
Evidence considered
- Protein position p.Ile2664=
- BRCA2 DNA-binding domain definition aa 2481-3186
Sources
Not assessed · 10 · no assessment recorded
PS1 No verified pathogenic or likely pathogenic comparator with the same predicted protein or splicing consequence was identified from the available evidence. Details ▾Hide ▴
Rule
PS1 requires an established pathogenic/likely pathogenic comparator with the same relevant consequence.
Evidence considered
- BRCA2 ENIGMA PS1 rule review
Still missing
- Variant-specific same-consequence comparator evidence was not identified.
Sources
PS3 No variant-specific calibrated functional assay result supporting a damaging effect was identified for c.7992T>A. Details ▾Hide ▴
Rule
PS3 requires a calibrated variant-specific damaging functional result.
Evidence considered
- Reviewed BRCA2 ENIGMA functional assay table
Still missing
- No exact-match functional assay result was identified in the reviewed materials.
Sources
vcep_specifications_table9_v1_2_2024_11_18vcep_specifications_v1_2_2024_11_18
PS4 No case-control enrichment data meeting the BRCA2 ENIGMA PS4 thresholds were identified for this variant. Details ▾Hide ▴
Rule
PS4 requires statistically increased prevalence in affected individuals versus controls.
Evidence considered
- Reviewed BRCA2 ENIGMA PS4 framework and multifactorial table leads
Still missing
- No qualifying odds ratio and p-value evidence were identified.
Sources
PM3 No evidence was identified for occurrence with another BRCA2 variant in a proband with BRCA2-related Fanconi anemia. Details ▾Hide ▴
Rule
PM3 in BRCA2 is reserved for qualifying Fanconi anemia cases with co-occurring variants.
Evidence considered
- BRCA2 ENIGMA PM3 rule review
Still missing
- No qualifying recessive disease-phase data were identified.
Sources
PP1 No quantitative co-segregation data were identified for this variant. Details ▾Hide ▴
Rule
PP1 requires quantitative co-segregation evidence.
Evidence considered
- BRCA2 ENIGMA PP1 rule review
Still missing
- No segregation likelihood ratio data were identified.
Sources
PP4 No variant-specific clinical-history likelihood ratio meeting BRCA2 ENIGMA PP4 thresholds was identified in the available data. Details ▾Hide ▴
Rule
PP4 in BRCA2 ENIGMA requires a qualifying multifactorial clinical-history likelihood ratio.
Evidence considered
- Reviewed BRCA2 clinical-history LR workbook
Still missing
- No exact-match clinical-history LR entry was identified.
Sources
BS2 No point-based evidence was identified to support BS2 under the BRCA2 ENIGMA Fanconi-anemia-related framework. Details ▾Hide ▴
Rule
BS2 in BRCA2 requires qualifying point-based evidence in the ENIGMA framework.
Evidence considered
- BRCA2 ENIGMA BS2 rule review
Still missing
- No qualifying BS2 point-assignment evidence was identified.
Sources
BS3 No variant-specific calibrated functional assay result showing no damaging effect was identified for c.7992T>A. Details ▾Hide ▴
Rule
BS3 requires a calibrated variant-specific non-damaging functional result.
Evidence considered
- Reviewed BRCA2 ENIGMA functional assay table
Still missing
- No exact-match benign functional assay result was identified in the reviewed materials.
Sources
vcep_specifications_table9_v1_2_2024_11_18vcep_specifications_v1_2_2024_11_18
BS4 No quantitative lack-of-segregation likelihood ratio meeting BRCA2 ENIGMA BS4 thresholds was identified for this variant. Details ▾Hide ▴
Rule
BS4 requires quantitative evidence for lack of segregation.
Evidence considered
- Reviewed BRCA2 ENIGMA BS4 framework and multifactorial table leads
Still missing
- No segregation LR data were identified.
Sources
BP5 No variant-specific clinical-history likelihood ratio meeting BRCA2 ENIGMA BP5 thresholds was identified in the available data. Details ▾Hide ▴
Rule
BP5 in BRCA2 ENIGMA requires a qualifying multifactorial clinical-history likelihood ratio in the benign direction.
Evidence considered
- Reviewed BRCA2 clinical-history LR workbook
Still missing
- No exact-match clinical-history LR entry was identified.
Sources
Not applicable · 9· recorded as not applicable Show reasons ▾Hide reasons ▴
PS2 VCEPThis criterion is not used in the BRCA2 ENIGMA specification. Details ▾Hide ▴
VCEP rule
Not applicable in BRCA2 ENIGMA v1.2.
Evidence considered
- BRCA2 ENIGMA criteria applicability
Sources
PM1 VCEPThis criterion is not applied in the BRCA2 ENIGMA specification. Details ▾Hide ▴
VCEP rule
Not applicable in BRCA2 ENIGMA v1.2.
Evidence considered
- BRCA2 ENIGMA criteria applicability
Sources
PM4 VCEPThis criterion is not used in the BRCA2 ENIGMA specification. Details ▾Hide ▴
VCEP rule
Not applicable in BRCA2 ENIGMA v1.2.
Evidence considered
- BRCA2 ENIGMA criteria applicability
Sources
PM5 N/AIn the BRCA2 ENIGMA framework, PM5 is repurposed for protein-truncating variant logic and does not apply to this synonymous substitution. Details ▾Hide ▴
Rule
BRCA2 ENIGMA PM5 is PTC-specific rather than classic same-residue missense PM5.
Evidence considered
- PM5 candidate review
- BRCA2 exon-level PM5/PTC framework
Sources
PM6 VCEPThis criterion is not used in the BRCA2 ENIGMA specification. Details ▾Hide ▴
VCEP rule
Not applicable in BRCA2 ENIGMA v1.2.
Evidence considered
- BRCA2 ENIGMA criteria applicability
Sources
PP2 VCEPThis criterion is not used in the BRCA2 ENIGMA specification. Details ▾Hide ▴
VCEP rule
Not applicable in BRCA2 ENIGMA v1.2.
Evidence considered
- BRCA2 ENIGMA criteria applicability
Sources
PP5 VCEPThis criterion is not used in current ACMG/AMP-based BRCA2 ENIGMA classification. Details ▾Hide ▴
VCEP rule
Not applicable in BRCA2 ENIGMA v1.2.
Evidence considered
- BRCA2 ENIGMA criteria applicability
Sources
BP2 VCEPThis criterion is not used in the BRCA2 ENIGMA specification. Details ▾Hide ▴
VCEP rule
Not applicable in BRCA2 ENIGMA v1.2.
Evidence considered
- BRCA2 ENIGMA criteria applicability
Sources
BP3 VCEPThis criterion is not used in the BRCA2 ENIGMA specification. Details ▾Hide ▴
VCEP rule
Not applicable in BRCA2 ENIGMA v1.2.
Evidence considered
- BRCA2 ENIGMA criteria applicability
Sources
Identifiers
- Gene
- BRCA2
- Transcript
- NM_000059.4
- Coding (HGVS c.)
- NM_000059.4:c.7992T>A
- Protein (HGVS p.)
- NP_000050.3:p.(Ile2664=)
- GRCh38
- chr13:32363194 T>A
- GRCh37
- chr13:32937331 T>A
- ClinVar
- 52463
Gene diagram
Every interpreted variant in BRCA2, mapped onto the exon structure of NM_000059.4. Select a row to find it on the plot.
BRCA2NM_000059.4
Fetching transcript structure from UCSC…
Exons
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Transcript span
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Strand
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Variants mapped
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Source
UCSC ncbiRefSeqCurated
All variants in BRCA2
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Select a row to find it on the plot; use the link to open its page.
| Protein | Location | Classification | Link |
|---|
gnomAD v4.1
59 / 1,613,670 alleles
AF 3.66e-05 · 0 homozygotes · FAF 3.67e-05
gnomAD v2.1
8 / 250,460 alleles
AF 3.19e-05 · 0 homozygotes · FAF 3.43e-05
By genetic ancestry
gnomAD v4.1
AF 3.7e-05 · 59 / 1,613,670 alleles · 0 hom · FAF 3.7e-05
| European (non-Finnish)55 / 1,179,916 | 4.7e-05 |
| Remaining individuals2 / 62,496 | 3.2e-05 |
| Admixed American1 / 60,006 | 1.7e-05 |
| European (Finnish)1 / 63,762 | 1.6e-05 |
0 alternate alleles recorded in 6 other groups: Amish, East Asian, Middle Eastern, South Asian, Ashkenazi Jewish, African/African American.
gnomAD v2.1
AF 3.2e-05 · 8 / 250,460 alleles · 0 hom · FAF 3.4e-05
| European (non-Finnish)8 / 113,186 | 7.1e-05 |
0 alternate alleles recorded in 7 other groups: African/African American, Admixed American, Ashkenazi Jewish, East Asian, European (Finnish), Remaining individuals, South Asian.
Statements
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 3.65626e-05; MAF= 0.00366%, 59/1613670 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 4.66135e-05; MAF= 0.00466%, 55/1179916 alleles, homozygotes = 0); grpmax FAF= 3.666e-05.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.19412e-05; MAF= 0.00319%, 8/250460 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 7.06801e-05; MAF= 0.00707%, 8/113186 alleles, homozygotes = 0); grpmax FAF= 3.433e-05.
SpliceAI and Pangolin
Other predictors
- REVEL
- Not available
- BayesDel
- Not available
How the predictions were used
BP4 SupportingThis synonymous variant lies within the BRCA2 DNA-binding domain and SpliceAI predicts no significant splice impact, with a maximum delta score of 0.02, which is below the BRCA2 ENIGMA BP4 threshold of 0.1. REVEL and BayesDel scores were not available, but they are not required for this silent-variant BP4 rule. Details ▾Hide ▴
Rule
BRCA2 ENIGMA BP4_Supporting applies to a silent variant inside a clinically important domain if SpliceAI ≤0.1.
Evidence considered
- SpliceAI max delta 0.02
- BRCA2 DNA-binding domain rule for silent variants
Sources
BP7 SupportingThis synonymous variant is located within the BRCA2 DNA-binding domain and also meets BP4 because SpliceAI predicts no significant splice impact, with a maximum delta score of 0.02. Under the BRCA2 ENIGMA rule, a silent variant inside a clinically important functional domain can receive BP7 at supporting strength when BP4 is met. Details ▾Hide ▴
Rule
BRCA2 ENIGMA BP7_Supporting applies to a silent variant inside a clinically important domain if BP4 is met.
Evidence considered
- SpliceAI max delta 0.02
- BP4 prerequisite satisfied for silent variant in domain
Sources
PP3 Computational evidence does not support a deleterious effect. SpliceAI predicts no significant splice impact with a maximum delta score of 0.02, which is below the BRCA2 ENIGMA PP3 threshold of 0.2. REVEL and BayesDel scores were not available for this synonymous change. Details ▾Hide ▴
Rule
For silent variants, BRCA2 ENIGMA PP3 requires SpliceAI ≥0.2.
Evidence considered
- SpliceAI max delta 0.02
- BRCA2 ENIGMA PP3 threshold review
Sources
Statement
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.02).
10 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
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PMID 21673748 ↗Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes.Théry JC et al. · 2011No paper-specific finding is recorded.
-
PMID 22505045 ↗Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.Houdayer C et al. · 2012No paper-specific finding is recorded.
-
PMID 22962691 ↗Multiple sequence variants of BRCA2 exon 7 alter splicing regulation.Gaildrat P et al. · 2012No paper-specific finding is recorded.
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PMID 23893897 ↗Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.Walker LC et al. · 2013No paper-specific finding is recorded.
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PMID 25741868 ↗Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.No paper-specific finding is recorded.
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PMID 26467025 ↗A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.No paper-specific finding is recorded.
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PMID 26913838 ↗Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants.Vallée MP et al. · 2016No paper-specific finding is recorded.
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PMID 28339459 ↗Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.Fraile-Bethencourt E et al. · 2017No paper-specific finding is recorded.
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PMID 26332594 ↗Identification of Medically Actionable Secondary Findings in the 1000 Genomes.Olfson E et al. · 2015No paper-specific finding is recorded.
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PMID 28492532 ↗Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.No paper-specific finding is recorded.
Screenshots represent source records captured during evidence collection. Select one to view the recorded source content.
gnomAD v4.1
59 / 1,613,670 recorded alleles
Open source ↗
gnomAD v2.1
Captured gnomAD v2.1 source record
Open source ↗
SpliceAI Lookup
Recorded maximum delta 0.020
Open source ↗
ClinVar
10 Likely benign · 4 Uncertain significance · 1 Benign
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 ↗
ClinGen CSpec
Captured ClinGen CSpec source record
Open source ↗
All source links
- ClinGen CSpec ↗cspec.genome.network/cspec/ui/svi/doc/1535438831
- ClinVar ↗www.ncbi.nlm.nih.gov/clinvar/variation/52463/
- gnomAD v2.1 ↗gnomad.broadinstitute.org/variant/13-32937331-T-A?dataset=gnomad_r2_1
- gnomAD v4.1 ↗gnomad.broadinstitute.org/variant/chr13-32363194-T-A?dataset=gn…
- SpliceAI Lookup ↗spliceailookup.broadinstitute.org/#variant=NM_000059.4%3Ac.7992…
- OncoKB ↗www.oncokb.org/gene/BRCA2/I2664=
- COSMIC ↗cancer.sanger.ac.uk/cosmic/search?q=BRCA2+c.7992T%3EA
- Cancer hotspots ↗www.cancerhotspots.org/
Statements for reports
The evidence statements recorded by the interpretation pipeline. They have not been reinterpreted by the page.
gnomAD v4.1
This variant is present in gnomAD v4.1 (AF= 3.65626e-05; MAF= 0.00366%, 59/1613670 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 4.66135e-05; MAF= 0.00466%, 55/1179916 alleles, homozygotes = 0); grpmax FAF= 3.666e-05.
gnomAD v2.1
This variant is present in gnomAD v2.1 (AF= 3.19412e-05; MAF= 0.00319%, 8/250460 alleles, homozygotes = 0) and has highest observed frequency in the European (non-Finnish) population (AF= 7.06801e-05; MAF= 0.00707%, 8/113186 alleles, homozygotes = 0); grpmax FAF= 3.433e-05.
ClinVar
This variant has been reported in ClinVar as Likely benign (10 clinical laboratories) and as Uncertain significance (4 clinical laboratories) and as Benign (1 clinical laboratory) and as Likely benign by Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) (expert panel). (ClinVarID = 52463)
In silico
SpliceAI predicts no significant splice impact for this variant (max delta score = 0.02).
Functional
OncoKB identified curated literature and non-variant-specific oncogenicity context for review; listed oncogenicity label: Unknown Oncogenic Effect.
Somatic
This variant does not lie in a statistically significant hotspot. This variant has not previously been reported in somatic cancers (COSMIC).
Cancer Hotspots
This variant does not lie in a statistically significant hotspot.