ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.6437_6440del (p.Asn2146fs)

dbSNP: rs397507855
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000661435 SCV000783712 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV001390819 SCV001592667 pathogenic Hereditary breast ovarian cancer syndrome 2024-01-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn2146Thrfs*21) in the BRCA2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA2 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with breast and/or ovarian cancer (PMID: 19656164, 28111427). ClinVar contains an entry for this variant (Variation ID: 52095). For these reasons, this variant has been classified as Pathogenic.
ClinVar Staff, National Center for Biotechnology Information (NCBI) RCV000577662 SCV000678943 not provided Familial cancer of breast no assertion provided literature only

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