ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.212+1G>A (rs80358042)

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Total submissions: 11
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000509688 SCV000607763 pathogenic Hereditary cancer-predisposing syndrome 2017-03-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Alterations at the canonical donor/acceptor sites (+/- 1, 2) without other strong (b-level) evidence supporting pathogenicity,Functionally-validated splicing mutation,Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation
Breast Cancer Information Core (BIC) (BRCA1) RCV000031027 SCV000144660 pathogenic Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000031027 SCV000144661 pathogenic Breast-ovarian cancer, familial 1 1997-09-04 no assertion criteria provided clinical testing
Color RCV000509688 SCV000683014 pathogenic Hereditary cancer-predisposing syndrome 2016-11-07 criteria provided, single submitter clinical testing
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge RCV000031027 SCV000325239 pathogenic Breast-ovarian cancer, familial 1 2015-10-02 criteria provided, single submitter clinical testing
Counsyl RCV000031027 SCV000487791 pathogenic Breast-ovarian cancer, familial 1 2015-11-17 criteria provided, single submitter clinical testing
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735528 SCV000863666 pathogenic Breast and/or ovarian cancer no assertion criteria provided clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496861 SCV000918781 pathogenic Hereditary breast and ovarian cancer syndrome 2018-09-13 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.212+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Five predict the variant abolishes a 5 splicing donor site. Multiple publications confirm a splice impact of this variant (Friedman_1995, Houdayer_2012). The variant allele was found at a frequency of 4.1e-06 in 244690 control chromosomes (gnomAD). c.212+1G>A has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (Friedman_1995, Diez_2003, Kim_2012, Lang_2017). These data indicate that the variant is very likely to be associated with disease. Five clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505828 SCV000296355 pathogenic not provided 2015-06-25 criteria provided, single submitter clinical testing
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto RCV000496861 SCV000587033 pathogenic Hereditary breast and ovarian cancer syndrome 2014-01-31 no assertion criteria provided research
Sharing Clinical Reports Project (SCRP) RCV000031027 SCV000053621 pathogenic Breast-ovarian cancer, familial 1 2012-10-18 no assertion criteria provided clinical testing

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