ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2635G>T (p.Glu879Ter) (rs80357251)

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Total submissions: 9
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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) RCV000031059 SCV000299800 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 RCV000047906 SCV000075919 pathogenic Hereditary breast and ovarian cancer syndrome 2018-11-13 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu879*) 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 reported in the literature in individuals affected with breast and ovarian cancer  (PMID: 10790221, 22970155, 24578176, 26541979). ClinVar contains an entry for this variant (Variation ID: 37478). Loss-of-function variants in BRCA1 are known to be pathogenic (PMID: 20104584). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000235968 SCV000292993 likely pathogenic not provided 2015-09-29 criteria provided, single submitter clinical testing This likely pathogenic variant is denoted BRCA1 c.2635G>T at the cDNA level and p.Glu879Ter (E879X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant has been reported in Chinese individuals with breast and/or ovarian cancer (Khoo 2000, Kwong 2009) and is considered likely pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031059 SCV000325412 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000509886 SCV000607767 pathogenic Hereditary cancer-predisposing syndrome 2016-09-26 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)
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769714 SCV000901134 pathogenic Breast and/or ovarian cancer 2017-01-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031059 SCV000053654 pathogenic Breast-ovarian cancer, familial 1 2006-09-27 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031059 SCV000144498 not provided Breast-ovarian cancer, familial 1 no assertion provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000047906 SCV000587240 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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