ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.-26G>A (rs1799943)

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Total submissions: 15
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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) RCV000112977 SCV000244917 benign Breast-ovarian cancer, familial 2 2015-01-12 reviewed by expert panel curation Class 1 not pathogenic based on frequency >1% in an outbred sampleset. Frequency 0.3689 (Asian), 0.04878 (African), 0.2282 (European), derived from 1000 genomes (2012-04-30).
Michigan Medical Genetics Laboratories,University of Michigan RCV000112977 SCV000195942 benign Breast-ovarian cancer, familial 2 2014-11-03 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000246798 SCV000301750 benign not specified criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000397056 SCV000383597 benign Fanconi anemia, complementation group D1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Illumina Clinical Services Laboratory,Illumina RCV000112977 SCV000383598 benign Breast-ovarian cancer, familial 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Fulgent Genetics,Fulgent Genetics RCV000112977 SCV000575763 benign Breast-ovarian cancer, familial 2 2016-02-08 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000246798 SCV000591649 benign not specified 2013-01-15 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000246798 SCV000602739 benign not specified 2018-07-01 criteria provided, single submitter clinical testing
Color RCV000580284 SCV000683385 benign Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing
GeneKor MSA RCV000246798 SCV000693623 benign not specified 2017-11-01 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000112977 SCV000743232 benign Breast-ovarian cancer, familial 2 2014-10-09 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000112977 SCV000744375 benign Breast-ovarian cancer, familial 2 2015-09-21 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000112977 SCV000145948 benign Breast-ovarian cancer, familial 2 2002-05-29 no assertion criteria provided clinical testing
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000114981 SCV000148882 untested Familial cancer of breast no assertion provided not provided Converted during submission to not provided.
Sharing Clinical Reports Project (SCRP) RCV000112977 SCV000189291 benign Breast-ovarian cancer, familial 2 2011-03-17 no assertion criteria provided clinical testing

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