ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1465G>T (p.Glu489Ter) (rs80357167)

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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) RCV000256732 SCV000323320 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 RCV000256732 SCV000325076 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000519520 SCV000617454 pathogenic not provided 2017-07-26 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1465G>T at the cDNA level and p.Glu489Ter (E489X) at the proteinlevel. 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 association with hereditary breast and ovarian cancer (Zhi2002, Cao 2016) and is considered pathogenic
3DMed Clinical Laboratory Inc RCV000677813 SCV000803972 pathogenic Neoplasm of the breast 2017-11-20 criteria provided, single submitter clinical testing

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