ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5173G>T (p.Glu1725Ter) (rs80357291)

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Total submissions: 3
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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) RCV000112544 SCV000300217 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneDx RCV000657594 SCV000779333 pathogenic not provided 2015-10-22 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.5173G>T at the cDNA level and p.Glu1725Ter (E1725X) at the protein level. Using alternate nomenclature this variant would be defined as BRCA2 5292G>T. 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 a family with several breast and ovarian cancer diagnoses (Bergman 2005) and is considered pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112544 SCV000145369 pathogenic Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing

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