ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.212+1G>A (rs80358042)

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Total submissions: 14
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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) RCV000031027 SCV001161541 pathogenic Breast-ovarian cancer, familial 1 2019-06-18 reviewed by expert panel curation IARC class based on posterior probability from multifactorial likelihood analysis, thresholds for class as per Plon et al. 2008 (PMID: 18951446). Class 5 based on posterior probability = 0.999995
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000505828 SCV000296355 pathogenic not provided 2019-07-19 criteria provided, single submitter clinical testing The variant disrupts a canonical splice site, and is therefore predicted to result in the loss of a functional protein. Found in at least one symptomatic patient, and found in general population data that is consistent with pathogenicity. Assessment of experimental evidence suggests this variant results in abnormal protein function.
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
Ambry Genetics RCV000509688 SCV000607763 pathogenic Hereditary cancer-predisposing syndrome 2019-03-11 criteria provided, single submitter clinical testing 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
Color RCV000509688 SCV000683014 pathogenic Hereditary cancer-predisposing syndrome 2020-03-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000496861 SCV000918781 pathogenic Hereditary breast and ovarian cancer syndrome 2019-10-28 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. A functional study, Houdayer_2012, confirmed these predictions. The variant allele was found at a frequency of 4e-06 in 249638 control chromosomes (gnomAD). c.212+1G>A has been reported in the literature in multiple individuals affected with Hereditary Breast and Ovarian Cancer (Diez_2003, Lang_2017, Kim_2012, Rebbeck_2018). These data indicate that the variant is very likely to be associated with disease. Five ClinVar submissions (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Sharing Clinical Reports Project (SCRP) RCV000031027 SCV000053621 pathogenic Breast-ovarian cancer, familial 1 2012-10-18 no assertion criteria provided clinical testing
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
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
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research RCV000735528 SCV000863666 pathogenic Breast and/or ovarian cancer no assertion criteria provided clinical testing
Brotman Baty Institute,University of Washington RCV000031027 SCV001242562 not provided Breast-ovarian cancer, familial 1 no assertion provided in vitro
King Laboratory,University of Washington RCV001171413 SCV001251318 pathogenic Breast-ovarian cancer, familial 1; Hereditary breast and ovarian cancer syndrome 2019-09-01 no assertion criteria provided research

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