ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4039_4043del (p.Val1347fs)

gnomAD frequency: 0.00001  dbSNP: rs1370021869
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. RCV003315286 SCV004014996 likely pathogenic Hereditary breast ovarian cancer syndrome 2023-05-25 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV003315286 SCV004848026 pathogenic Hereditary breast ovarian cancer syndrome 2017-01-27 criteria provided, single submitter clinical testing The p.Val1347fs variant in BRCA2 has not been previously reported in individuals with BRCA2-associated cancers or in large population studies. This variant is predicted to cause a frameshift, which alters the protein’s amino acid sequence beginning at position 1347 and leads to a premature termination codon 3 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Heterozygous loss of function of the BRCA2 gene is an established disease mechanism in individuals with HBOC. In summary, this variant meets criteria to be classified as pathogenic for HBOC in an autosomal dominant manner based upon predicted impact to the protein.

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