ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.850C>T (p.Gln284Ter) (rs397509330)

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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) RCV000238750 SCV000323922 pathogenic Breast-ovarian cancer, familial 1 2016-10-18 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000217707 SCV000277512 pathogenic Hereditary cancer-predisposing syndrome 2017-12-19 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)
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000238750 SCV000296314 pathogenic Breast-ovarian cancer, familial 1 2015-03-23 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000238750 SCV000326445 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000484760 SCV000568431 pathogenic not provided 2017-05-24 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.850C>T at the cDNA level and p.Gln284Ter (Q284X) 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 reported as BRCA1 969C>T using alternate nomenclature, has been identified in individuals with a personal and/or family history of breast and/or ovarian cancer (Seymour 2008, Wong-Brown 2015, Kwong 2016, Afghahi 2017). We consider this variant to be pathogenic.

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