ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.4085del (p.His1362fs)

dbSNP: rs431825315
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Total submissions: 4
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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) RCV000082923 SCV000300705 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV001857400 SCV002191920 pathogenic Hereditary breast ovarian cancer syndrome 2022-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 96802). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.His1362Profs*12) 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).
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV005229888 SCV005877144 pathogenic not provided 2024-10-01 criteria provided, single submitter clinical testing The BRCA2 c.4085del; p.His1362ProfsTer12 variant (rs431825315, ClinVar Variation ID 96802) is reported in one individual with breast cancer (Ueda 2019). This variant is absent from the Genome Aggregation Database (v2.1.1), indicating it is not a common polymorphism. This variant causes a frameshift by deleting a single nucleotide, so it is predicted to result in a truncated protein or mRNA subject to nonsense-mediated decay. Based on available information, this variant is considered to be pathogenic. References: Ueda M et al. Challenges in Managing Patients with Hereditary Cancer at Gynecological Services. Obstet Gynecol Int. 2019 PMID: 31263500.
Sharing Clinical Reports Project (SCRP) RCV000082923 SCV000114997 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2012-05-01 no assertion criteria provided clinical testing

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