ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.3352C>T (p.Gln1118Ter) (rs397507215)

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Total submissions: 6
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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) RCV000031105 SCV000299929 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 RCV000167367 SCV000218219 pathogenic Hereditary cancer-predisposing syndrome 2014-12-29 criteria provided, single submitter clinical testing Alterations resulting in premature truncation (e.g.reading frame shift, nonsense)
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031105 SCV000325628 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
GeneDx RCV000578536 SCV000680501 pathogenic not provided 2017-10-03 criteria provided, single submitter clinical testing This pathogenic variant is denoted BRCA1 c.3352C>T at the cDNA level and p.Gln1118Ter (Q1118X) atthe protein level. Using alternate nomenclature, this variant would be defined as BRCA1 3471C>T. The substitutioncreates a nonsense variant, which changes a Glutamine to a premature stop codon (CAG>TAG), and is predicted tocause loss of normal protein function through either protein truncation or nonsense-mediated mRNA decay. Thisvariant has been reported in families with breast and/or ovarian cancer (Lecarpentier 2012, Mannan 2016) and isconsidered pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031105 SCV000053701 pathogenic Breast-ovarian cancer, familial 1 2013-04-08 no assertion criteria provided clinical testing
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785370 SCV000923941 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research

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