ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4999A>T (p.Lys1667Ter) (rs80357204)

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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) RCV000112459 SCV000300182 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 RCV000235971 SCV000293368 pathogenic not provided 2018-10-30 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.4999A>T at the cDNA level and p.Lys1667Ter (K1667X) at the protein level. The substitution creates a nonsense variant, which changes a Lysine to a premature stop codon (AAG>TAG), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. This variant, also defined as BRCA1 5118A>T using alternate nomenclature, has been reported in at least one individual who had undergone testing for Hereditary Breast and Ovarian Cancer syndrome (Coulet 2000) and is considered pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112459 SCV000326101 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Color RCV000774937 SCV000909000 pathogenic Hereditary cancer-predisposing syndrome 2018-01-06 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112459 SCV000145257 pathogenic Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing

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