ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2197G>T (p.Glu733Ter) (rs397508949)

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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) RCV000077511 SCV000299714 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 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 RCV000077511 SCV000325283 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000479672 SCV000568421 pathogenic not provided 2017-04-21 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.2197G>T at the cDNA level and p.Glu733Ter (E733X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 c.2316G>T. The substitution creates a nonsense variant, which changes a Glutamic Acid to a premature stop codon (GAG>TAG), 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 at least one individual with breast cancer who had a family history of breast and/or ovarian cancer (Litton 2012), and is considered pathogenic.
Ambry Genetics RCV000509808 SCV000607901 pathogenic Hereditary cancer-predisposing syndrome 2016-05-27 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Sharing Clinical Reports Project (SCRP) RCV000077511 SCV000109311 pathogenic Breast-ovarian cancer, familial 1 2012-06-25 no assertion criteria provided clinical testing

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