ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.3268C>T (p.Gln1090Ter) (rs80357402)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breast Cancer Information Core (BIC) (BRCA1) RCV000112042 SCV000144695 pathogenic Breast-ovarian cancer, familial 1 2004-11-25 no assertion criteria provided clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112042 SCV000325595 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000112042 SCV000299904 pathogenic Breast-ovarian cancer, familial 1 2016-09-08 reviewed by expert panel curation Variant allele predicted to encode a truncated non-functional protein.
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne RCV000785407 SCV000923979 pathogenic Ovarian Neoplasms 2018-12-01 no assertion criteria provided research
Integrated Genetics/Laboratory Corporation of America RCV000779899 SCV000916799 pathogenic Hereditary breast and ovarian cancer syndrome 2018-08-24 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.3268C>T (p.Gln1090X) 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. Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g. c.3288_3289delAA (p.Leu1098fsX4), c.3296delC (p.Pro1099fsX10), c.3331C>T (p.Gln1111X)). The variant was absent in 276164 control chromosomes (gnomAD). c.3268C>T has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer (Gao 2000, Fackenthal 2012, Wong-Brown 2015). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Two other clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation, and both classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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