ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4810C>T (p.Gln1604Ter) (rs80357352)

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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) RCV000112402 SCV000300165 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
Ambry Genetics RCV000215003 SCV000277042 pathogenic Hereditary cancer-predisposing syndrome 2015-07-09 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112402 SCV000326046 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000480361 SCV000567703 pathogenic not provided 2015-08-17 criteria provided, single submitter clinical testing The BRCA1 c.4810C>T substitution, also known as BRCA1 4929C>T using alternate nomenclature, creates a nonsensevariant which changes a Glutamine to a premature stop codon (CAA>TAA) in exon 15, and is predicted to cause lossof normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant hasbeen reported in individuals with a personal and family history of early-onset and bilateral breast cancer (Laplace-Marieze 1997, de Juan Jimenez 2013). We consider this variant to be pathogenic.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112402 SCV000145184 pathogenic Breast-ovarian cancer, familial 1 1997-04-14 no assertion criteria provided clinical testing

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