ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.267G>A (p.Pro89=) (rs587780648)

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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 RCV000164022 SCV000214627 likely benign Hereditary cancer-predisposing syndrome 2014-08-29 criteria provided, single submitter clinical testing
Color RCV000164022 SCV000683497 likely benign Hereditary cancer-predisposing syndrome 2015-03-31 criteria provided, single submitter clinical testing
Counsyl RCV000169543 SCV000221032 likely benign Breast-ovarian cancer, familial 2 2015-01-15 criteria provided, single submitter literature only
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000124002 SCV000591670 benign not specified 2012-11-21 criteria provided, single submitter clinical testing
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) RCV000169543 SCV000578711 likely benign Breast-ovarian cancer, familial 2 2017-06-29 reviewed by expert panel curation Synonymous substitution variant, with low bioinformatic likelihood to result in a splicing aberration (Splicing prior probability 0.02; http://priors.hci.utah.edu/PRIORS/).
GeneDx RCV000124002 SCV000167402 benign not specified 2013-12-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Illumina Clinical Services Laboratory,Illumina RCV000264473 SCV000383606 uncertain significance Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000122903 SCV000383607 uncertain significance Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587399 SCV000694616 uncertain significance not provided 2016-03-10 criteria provided, single submitter clinical testing Variant summary: BRCA2 c.267G>A affects a non-conserved nucleotide, resulting in a synonymous change. Mutation taster predicts benign outcome. 5/5 programs in Alamut predict no change to RNA splicing sites. ESEfinder predicts changes of binding motifs for RNA splicing enhancers. This variant was found in 2/120746 control chromosomes at a frequency of 0.0000166, which does not significantly exceed maximal expected frequency of a pathogenic allele (0.0007503). This variant has been reported in one BrC patient without strong evidence for causality. In addition, multiple clinical laboratories classified this variant as benign/likely benign, without evidence to independent evaluate. Taken together, this variant was classified as VUS-Possibly Benign until more information becomes available.
Invitae RCV000122903 SCV000166161 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-29 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000124002 SCV000600520 likely benign not specified 2017-06-16 criteria provided, single submitter clinical testing

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