ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.8579del (p.Lys2860fs)

dbSNP: rs80359719
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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) RCV000256962 SCV000324683 pathogenic Breast-ovarian cancer, familial, susceptibility to, 2 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Labcorp Genetics (formerly Invitae), Labcorp RCV000496717 SCV001582818 pathogenic Hereditary breast ovarian cancer syndrome 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys2860Argfs*3) 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 cancer (PMID: 20927582, 29681614). This variant is also known as 8804delA. ClinVar contains an entry for this variant (Variation ID: 52627). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005007979 SCV005633985 pathogenic Familial cancer of breast; Breast-ovarian cancer, familial, susceptibility to, 2; Fanconi anemia complementation group D1; Medulloblastoma; Wilms tumor 1; Pancreatic cancer, susceptibility to, 2; Glioma susceptibility 3; Familial prostate cancer 2024-04-29 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto RCV000496717 SCV000587963 pathogenic Hereditary breast ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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