ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3286C>T (p.Gln1096Ter) (rs80357485)

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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) RCV000112045 SCV000299908 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 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 RCV000112045 SCV000325599 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000486625 SCV000568409 pathogenic not provided 2016-07-06 criteria provided, single submitter clinical testing This variant is denoted BRCA1 c.3286C>T at the cDNA level and p.Gln1096Ter (Q1096X) at the protein level. 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. This variant, also known as BRCA1 c.3405C>T by alternate nomenclature, has been identified in individuals with hereditary breast and/or ovarian cancer (Liede 2002, Majdak 2005, Wong-Brown 2015, Kwong 2016), and is considered pathogenic.
Ambry Genetics RCV000510107 SCV000608080 pathogenic Hereditary cancer-predisposing syndrome 2017-03-09 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)
Breast Cancer Information Core (BIC) (BRCA1) RCV000112045 SCV000144698 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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