ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.505C>T (p.Gln169Ter) (rs80357133)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000112722 SCV000145602 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Color RCV000775189 SCV000909409 pathogenic Hereditary cancer-predisposing syndrome 2018-06-07 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112722 SCV000326125 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000048752 SCV000591274 pathogenic Hereditary breast and ovarian cancer syndrome 2012-05-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112722 SCV000299468 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735469 SCV000863606 pathogenic Breast and/or ovarian cancer 2015-05-25 no assertion criteria provided clinical testing
Invitae RCV000048752 SCV000076765 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 169 (p.Gln169*). It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BRCA1 are known to be pathogenic. This particular variant has been reported in individuals and families affected with breast and/or ovarian cancer (PMID: 7493024, 16267036). For these reasons, this variant has been classified as Pathogenic.
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000048752 SCV000587057 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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