ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.928C>T (p.Gln310Ter) (rs397509338)

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Total submissions: 4
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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) RCV000257439 SCV000323934 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000257439 SCV000326464 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657623 SCV000779366 pathogenic not provided 2015-12-22 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.928C>T at the cDNA level and p.Gln310Ter (Q310X) at the protein level. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG) , and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also published as BRCA1 c.1047C>T using alternate nomenclature, has been reported in association with breast and ovarian cancer (Wang 2000, Kim 2006, Seong 2009, Tang 2001), and is considered pathogenic.
Veritas Genetics,Veritas Genetics RCV000416963 SCV000494572 pathogenic Hereditary breast and ovarian cancer syndrome 2016-06-28 no assertion criteria provided clinical testing

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