ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4891dup (p.Ser1631fs)

dbSNP: rs80357656
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Total submissions: 3
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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) RCV000112417 SCV000300169 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.
Invitae RCV000700348 SCV000829100 pathogenic Hereditary breast ovarian cancer syndrome 2018-02-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser1631Lysfs*48) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). This variant has not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 125733). This variant is not present in population databases (ExAC no frequency).
Breast Cancer Information Core (BIC) (BRCA1) RCV000112417 SCV000145203 pathogenic Breast-ovarian cancer, familial, susceptibility to, 1 2004-11-25 no assertion criteria provided clinical testing

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