ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.1561del (p.Ser521fs)

dbSNP: rs886040374
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002543541 SCV003306993 pathogenic Hereditary breast ovarian cancer syndrome 2022-07-18 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1012162). This variant has not been reported in the literature in individuals affected with BRCA2-related conditions. This sequence change creates a premature translational stop signal (p.Ser521Glnfs*4) 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).
Genomic Center, National Cancer Institute RCV001310066 SCV001499589 pathogenic Familial cancer of breast no assertion criteria provided case-control

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