ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.466_467CT[2] (p.Leu156_Ser157insTer) (rs80357887)

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Total submissions: 11
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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) RCV000031189 SCV000282333 pathogenic Breast-ovarian cancer, familial 1 2016-04-22 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Invitae RCV000203622 SCV000076650 pathogenic Hereditary breast and ovarian cancer syndrome 2018-10-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser157*) 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 individuals and families affected with breast and ovarian cancer (PMID: 11149413, 22970155, 23683081, 24916970). This variant is also known as 589delCT. ClinVar contains an entry for this variant (Variation ID: 37608). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000131836 SCV000186891 pathogenic Hereditary cancer-predisposing syndrome 2018-04-06 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)
GeneDx RCV000048637 SCV000210001 pathogenic not provided 2018-12-12 criteria provided, single submitter clinical testing This deletion of 2 nucleotides is denoted BRCA1 c.470_471delCT at the cDNA level and p.Ser157Ter (S157X) at the protein level. The normal sequence, with the bases that are deleted in braces, is CTCT[CT]AACC. The deletion creates a nonsense variant, which changes a Serine to a premature stop codon. This variant is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. BRCA1 470_471delCT, previously reported as 589delCT, has been published in association with early-onset and/or familial breast and ovarian cancer and has been reported as a recurrent variant in Asian, Spanish, and Portuguese populations (Tang 1999, de la Hoya 2001, Kwong 2012, Blay 2013, Peixoto 2015). We therefore consider this variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031189 SCV000326035 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000131836 SCV000688515 pathogenic Hereditary cancer-predisposing syndrome 2017-09-07 criteria provided, single submitter clinical testing
Mendelics RCV000203622 SCV000839303 pathogenic Hereditary breast and ovarian cancer syndrome 2018-07-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000048637 SCV000888925 pathogenic not provided 2018-07-09 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031189 SCV000053789 pathogenic Breast-ovarian cancer, familial 1 2010-08-27 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031189 SCV000145594 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000203622 SCV000587056 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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