ClinVar Miner

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

dbSNP: rs1566219362
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Total submissions: 1
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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.

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