ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5202del (p.Phe1734fs) (rs876659867)

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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) RCV000660924 SCV000783161 pathogenic Breast-ovarian cancer, familial 1 2017-12-15 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000219797 SCV000276780 pathogenic Hereditary cancer-predisposing syndrome 2015-06-26 criteria provided, single submitter clinical testing
Invitae RCV000637704 SCV000759175 pathogenic Hereditary breast and ovarian cancer syndrome 2017-12-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe1734Leufs*31) 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 not been reported in the literature in individuals with BRCA1-related disease. ClinVar contains an entry for this variant (Variation ID: 232606). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.

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