ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.1233T>G (p.Asp411Glu) (rs80357024)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000130781 SCV000185674 likely benign Hereditary cancer-predisposing syndrome 2017-09-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: in silico models in agreement (benign),Other data supporting benign classification
Biesecker Lab/Human Development Section,National Institutes of Health RCV000034726 SCV000043182 variant of unknown significance not provided 2012-07-13 no assertion criteria provided research Converted during submission to Uncertain significance.
Breast Cancer Information Core (BIC) (BRCA1) RCV000083166 SCV000144035 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000130781 SCV000903235 benign Hereditary cancer-predisposing syndrome 2015-12-10 criteria provided, single submitter clinical testing
GeneDx RCV000428573 SCV000517031 likely benign not specified 2017-11-21 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.
Integrated Genetics/Laboratory Corporation of America RCV000034726 SCV000698836 uncertain significance not provided 2017-07-27 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.1233T>G (p.Asp411Glu) variant involves the alteration of a non-conserved nucleotide. 4/4 in silico tools predict a benign outcome for this variant (SNPs&GO not captured due to low reliability index). This variant was found in 6/219946 control chromosomes at a frequency of 0.0000273, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). This variant has been reported in many HBOC patients/families or in individuals undergoing BRCA1/2 clinical testing without strong evidence for or against pathogenicity. Diagnostic labs/reputable databases have provided conflicting interpretations, ranging from uncertain significance to benign without providing evidence to indepedently evaluate. There are no published functional studies for this variant. This variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Invitae RCV000047387 SCV000075400 likely benign Hereditary breast and ovarian cancer syndrome 2018-01-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000428573 SCV000600244 uncertain significance not specified 2017-01-23 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083166 SCV000115240 benign Breast-ovarian cancer, familial 1 2012-05-01 no assertion criteria provided clinical testing

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