ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1999C>T (p.Gln667Ter) (rs80356889)

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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) RCV000111748 SCV000299682 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 RCV000162848 SCV000213335 pathogenic Hereditary cancer-predisposing syndrome 2017-04-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
GeneDx RCV000236983 SCV000293985 pathogenic not provided 2016-02-18 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.1999C>T at the cDNA level and p.Gln667Ter (Q667X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 2118C>T. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAA>TAA), and is predicted to cause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Although this variant has not, to our knowledge, been reported in the literature, it is considered pathogenic.
Color RCV000162848 SCV000909356 pathogenic Hereditary cancer-predisposing syndrome 2018-04-16 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000111748 SCV000144270 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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