ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4656C>G (p.Tyr1552Ter) (rs80357151)

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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) RCV000112374 SCV000300150 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000048620 SCV000076633 pathogenic Hereditary breast and ovarian cancer syndrome 2016-04-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1552 (p.Tyr1552*) of the BRCA1 gene. It is expected to result in an absent or disrupted protein product. Truncating variants in BRCA1 are known to be pathogenic. This particular truncation has been reported in the literature in an individual with breast and/or ovarian cancer (PMID: 22970155). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112374 SCV000326013 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112374 SCV000145141 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000048620 SCV000587414 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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