ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2017G>T (p.Glu673Ter) (rs80357391)

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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) RCV000111751 SCV000299686 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000131903 SCV000186958 pathogenic Hereditary cancer-predisposing syndrome 2017-08-17 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)
GeneDx RCV000212166 SCV000210118 pathogenic not provided 2014-07-11 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.2017G>T at the cDNA level and p.Glu673Ter (E673X) 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 one woman with breast cancer and in another with a personal and/or family history suggestive of hereditary breast and ovarian cancer syndrome (Olopade 2003, Beristain 2010) and is considered pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000111751 SCV000325213 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111751 SCV000144276 pathogenic Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing

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