ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.2473G>T (p.Asp825Tyr) (rs80357328)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000132467 SCV000187561 uncertain significance Hereditary cancer-predisposing syndrome 2017-10-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or Conflicting Evidence
Breast Cancer Information Core (BIC) (BRCA1) RCV000083184 SCV000144447 uncertain significance Breast-ovarian cancer, familial 1 1999-04-12 no assertion criteria provided clinical testing
Color RCV000132467 SCV000903173 likely benign Hereditary cancer-predisposing syndrome 2017-04-07 criteria provided, single submitter clinical testing
Counsyl RCV000083184 SCV000489708 uncertain significance Breast-ovarian cancer, familial 1 2016-11-11 criteria provided, single submitter clinical testing
GeneDx RCV000435802 SCV000516568 likely benign not specified 2017-09-27 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.
Integrated Genetics/Laboratory Corporation of America RCV000586521 SCV000698958 uncertain significance not provided 2016-06-10 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.2473G>T (p.Asp825Tyr) variant involves the alteration of a non-conserved nucleotide. 3/5 in silico tools predict a damaging outcome. This variant is absent in 121366 control chromosomes. This variant has been reported in affected individual without strong evidence for causality. BIC reported one co-occurrence with variant of interest and a potentially pathogenic variant in BRCA1 (c.2468delG/p.R823Kfs; listed in BIC with classification of "class 5-pathogenic"). Multiple clinical diagnostic laboratories classified this variant as VUS and SCRP listed variant as likely benign, all without evidence to independently evaluate. Because of the lack of clinical information and the absence of functional studies, the variant was classified as a variant of uncertain significance (VUS)-possibly benign until additional information becomes available.
Invitae RCV000047848 SCV000075861 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-18 criteria provided, single submitter clinical testing
PreventionGenetics RCV000586521 SCV000806918 uncertain significance not provided 2017-10-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000435802 SCV000600288 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083184 SCV000115258 likely benign Breast-ovarian cancer, familial 1 2012-07-17 no assertion criteria provided clinical testing

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