ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5266C>T (p.Gln1756Ter) (rs397509247)

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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) RCV000257437 SCV000323854 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 RCV000257437 SCV000326230 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000657590 SCV000779327 pathogenic not provided 2017-11-22 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.5266C>T at the cDNA level and p.Gln1756Ter (Q1756X) at the protein level. Using alternate nomenclature, this variant would be described as BRCA1 5385C>T. The substitution creates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>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 at least two individuals with a personal history of breast cancer (Stoppa-Lyonnet 1997, Kang 2015) and is considered pathogenic.
Color RCV000774930 SCV000908987 pathogenic Hereditary cancer-predisposing syndrome 2018-02-20 criteria provided, single submitter clinical testing

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