ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1214C>G (p.Ser405Ter) (rs80357481)

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Total submissions: 5
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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) RCV000083017 SCV000299560 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
3DMed Clinical Laboratory Inc RCV000677801 SCV000803959 pathogenic Neoplasm of the breast 2017-06-28 criteria provided, single submitter clinical testing
Color RCV000772035 SCV000905037 pathogenic Hereditary cancer-predisposing syndrome 2018-03-25 criteria provided, single submitter clinical testing
Invitae RCV000813264 SCV000953616 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser405*) in the BRCA1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with hereditary breast and ovarian cancer (PMID: 25927356). ClinVar contains an entry for this variant (Variation ID: 96896). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000083017 SCV000115091 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing

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