ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3635C>G (p.Ser1212Ter)

dbSNP: rs886038021
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Total submissions: 2
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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) RCV000241422 SCV000299983 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 RCV000637626 SCV000759092 pathogenic Hereditary breast ovarian cancer syndrome 2022-01-27 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: 254438). This premature translational stop signal has been observed in individual(s) with clinical features of BRCA1-related conditions (PMID: 21520333, 25428789). This sequence change creates a premature translational stop signal (p.Ser1212*) 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).

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