ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3389C>G (p.Ser1130Ter) (rs80357405)

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Total submissions: 7
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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) RCV000031109 SCV000299936 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 RCV000236909 SCV000293195 pathogenic not provided 2017-11-29 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.3389C>G at the cDNA level and p.Ser1130Ter (S1130X) at the protein level. Using alternate nomenclature, this variant would be defined as BRCA1 3508C>G. The substitution creates a nonsense variant, which changes a Serine to a premature stop codon (TCA>TGA), 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 hereditary breast and/or ovarian cancer and co-segregated with associated cancers in one of these families (Plummer 1995, Borg 2010). We consider variant to be pathogenic.
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031109 SCV000325643 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000236909 SCV000600330 pathogenic not provided 2017-06-16 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031109 SCV000053705 pathogenic Breast-ovarian cancer, familial 1 2010-11-03 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031109 SCV000144746 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496618 SCV000587307 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research

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