ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3412G>T (p.Gly1138Ter) (rs886040126)

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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) RCV000256530 SCV000323606 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 RCV000256530 SCV000325651 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000324250 SCV000330417 pathogenic not provided 2018-09-05 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3412G>T at the cDNA level and p.Gly1138Ter (G1138X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 3531G>T. The substitution creates a nonsense variant, which changes a Glycine to a premature stop codon (GGA>TGA) , 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 syndrome (Rebbeck 2018) and is considered pathogenic.

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