ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3853del (p.Ser1286fs)

dbSNP: rs397507222
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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) RCV000241420 SCV000300029 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Baylor Genetics RCV000241420 SCV004216982 likely pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2022-03-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV005090250 SCV005759040 pathogenic Hereditary breast ovarian cancer syndrome 2024-06-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1286Valfs*21) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BRCA1-related conditions. ClinVar contains an entry for this variant (Variation ID: 254445). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000241420 SCV000053732 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2007-12-22 no assertion criteria provided clinical testing

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