ClinVar Miner

Submissions for variant NM_000059.4(BRCA2):c.925del (p.Ser309fs)

dbSNP: rs886038058
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003530110 SCV004314307 pathogenic Hereditary breast ovarian cancer syndrome 2023-08-05 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: 631514). This premature translational stop signal has been observed in individual(s) with BRCA2-related conditions (PMID: 33754277). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ser309Hisfs*15) 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).
Department of Pathology and Laboratory Medicine, Sinai Health System RCV005392371 SCV006055109 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 2020-06-23 criteria provided, single submitter clinical testing
Academic Center for Education, Culture and Research, Motamed Cancer Institute RCV000778088 SCV000914183 pathogenic Familial cancer of breast 2019-05-19 no assertion criteria provided clinical testing

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