ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.613_614del (p.Ser205fs)

dbSNP: rs1566219362
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ACT Genomics, RCV001169841 SCV001250607 pathogenic Breast neoplasm 2020-04-27 criteria provided, single submitter clinical testing This frameshift deletion c.613_614delAG (Ser205PhefsTer9) in BRCA2 is predicted to result in the formation of a premature stop codon. This mutatiom is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005012584 SCV005634396 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 2024-03-19 criteria provided, single submitter clinical testing

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