ClinVar Miner

Submissions for variant NM_000059.3(BRCA2):c.5986G>A (p.Ala1996Thr) (rs80358833)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195331 SCV000072826 benign Hereditary breast and ovarian cancer syndrome 2017-12-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV000129689 SCV000184490 likely benign Hereditary cancer-predisposing syndrome 2018-04-19 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Other data supporting benign classification,Subpopulation frequency in support of benign classification
GeneDx RCV000044813 SCV000210377 likely benign not specified 2017-08-17 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 RCV000195331 SCV000383729 likely benign Hereditary breast and ovarian cancer syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000318984 SCV000383730 likely benign Fanconi anemia 2016-06-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000044813 SCV000538488 uncertain significance not specified 2016-03-28 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: ClinVar: 3 B/LB, 2 VUS; 1 paper in HGMD
Color RCV000129689 SCV000910686 benign Hereditary cancer-predisposing syndrome 2016-03-28 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077366 SCV000109163 benign Breast-ovarian cancer, familial 2 2012-06-05 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA2) RCV000077366 SCV000146746 uncertain significance Breast-ovarian cancer, familial 2 2001-02-16 no assertion criteria provided clinical testing

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