ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5158A>G (p.Thr1720Ala) (rs56195342)

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Total submissions: 11
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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) RCV000077605 SCV000244390 benign Breast-ovarian cancer, familial 1 2015-08-10 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 1 based on posterior probability = 0.000000000000344
Invitae RCV000203648 SCV000076849 benign Hereditary breast and ovarian cancer syndrome 2018-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000175327 SCV000167319 benign not specified 2014-02-21 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.
Ambry Genetics RCV000162823 SCV000213306 benign Hereditary cancer-predisposing syndrome 2014-11-18 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000175327 SCV000226798 likely benign not specified 2015-03-10 criteria provided, single submitter clinical testing
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000175327 SCV000591588 likely benign not specified 2015-09-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory,University Medical Center Utrecht RCV000077605 SCV000743378 benign Breast-ovarian cancer, familial 1 2017-07-28 criteria provided, single submitter clinical testing
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center RCV000077605 SCV000744593 benign Breast-ovarian cancer, familial 1 2015-09-21 criteria provided, single submitter clinical testing
Color RCV000162823 SCV000910646 benign Hereditary cancer-predisposing syndrome 2015-12-14 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077605 SCV000109408 uncertain significance Breast-ovarian cancer, familial 1 2008-11-14 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077605 SCV000145365 uncertain significance Breast-ovarian cancer, familial 1 1999-12-30 no assertion criteria provided clinical testing

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