ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3967C>T (p.Gln1323Ter) (rs80357262)

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Total submissions: 10
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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) RCV000083202 SCV000300049 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 RCV000048393 SCV000076406 pathogenic Hereditary breast and ovarian cancer syndrome 2016-11-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 1323 (p.Gln1323*) of the BRCA1 gene. It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). ClinVar contains an entry for this variant (Variation ID: 55062). For these reasons, this variant has been classified as Pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000083202 SCV000325800 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000048393 SCV000591479 pathogenic Hereditary breast and ovarian cancer syndrome 2014-11-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV000570266 SCV000660948 pathogenic Hereditary cancer-predisposing syndrome 2016-10-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Counsyl RCV000083202 SCV000786097 pathogenic Breast-ovarian cancer, familial 1 2018-02-21 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000985411 SCV001133572 pathogenic not provided 2019-02-22 criteria provided, single submitter clinical testing The variant creates a premature nonsense codon, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity.
Sharing Clinical Reports Project (SCRP) RCV000083202 SCV000115276 pathogenic Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083202 SCV000144929 pathogenic Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000048393 SCV000587364 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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