ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.671-2A>C (rs80358108)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000112767 SCV000326385 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. RCV000112767 SCV000576446 pathogenic Breast-ovarian cancer, familial 1 2017-02-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565769 SCV000660956 pathogenic Hereditary cancer-predisposing syndrome 2016-04-11 criteria provided, single submitter clinical testing The c.671-2A>C intronic pathogenic mutation results from an A to C substitution two nucleotides upstream from coding exon 9 in the BRCA1 gene. This mutation was reported in a high-risk breast cancer family and was shown to result in an aberrant RNA splicing transcript with deleted exon 11 (coding exon 9) (Keaton JC et al.J. Hum. Genet. 2003 ; 48(8):399-403).In addition to the clinical data presented in the literature, since alterations that disrupt the canonical splice acceptor site are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMGRecommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007.Genet Med.2008;10:294).
Color Health, Inc RCV000565769 SCV000911277 likely pathogenic Hereditary cancer-predisposing syndrome 2019-04-12 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112767 SCV000145659 pathogenic Breast-ovarian cancer, familial 1 1999-06-21 no assertion criteria provided clinical testing

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