ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.8695C>T (p.Gln2899Ter) (rs397507411)

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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) RCV000031762 SCV000301305 pathogenic Breast-ovarian cancer, familial 2 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
GeneKor MSA RCV000045603 SCV000296835 pathogenic Familial cancer of breast 2017-11-01 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031762 SCV000327949 pathogenic Breast-ovarian cancer, familial 2 2015-10-02 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000506732 SCV000602843 pathogenic not specified 2016-12-12 criteria provided, single submitter clinical testing
Ambry Genetics RCV000566353 SCV000661249 pathogenic Hereditary cancer-predisposing syndrome 2017-07-10 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)
Integrated Genetics/Laboratory Corporation of America RCV000779984 SCV000916965 pathogenic Hereditary breast and ovarian cancer syndrome 2018-04-20 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.8695C>T (p.Gln2899X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 246120 control chromosomes. c.8695C>T has been reported in the literature in several individuals affected with Hereditary Breast and Ovarian Cancer. These data indicate that the variant is likely to be associated with disease. At least one publication reports experimental evidence showing a significant increase in spontaneous sister chromatid exchanges in metaphase spreads (Kim_2004). Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 and all classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031762 SCV000054370 pathogenic Breast-ovarian cancer, familial 2 2009-12-09 no assertion criteria provided clinical testing

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