ClinVar Miner

Submissions for variant NM_000465.3(BARD1):c.773T>C (p.Ile258Thr) (rs146223579)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000129102 SCV000183813 likely benign Hereditary cancer-predisposing syndrome 2018-03-09 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,Subpopulation frequency in support of benign classification
Color RCV000129102 SCV000682815 benign Hereditary cancer-predisposing syndrome 2016-05-02 criteria provided, single submitter clinical testing
Counsyl RCV000203950 SCV000784929 uncertain significance Familial cancer of breast 2017-02-06 criteria provided, single submitter clinical testing
GeneDx RCV000441309 SCV000524729 likely benign not specified 2016-09-08 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 RCV000588107 SCV000696789 benign not provided 2016-02-01 criteria provided, single submitter clinical testing Variant summary: BARD1 c.773T>C variant affects a non-conserved nucleotide, resulting in amino acid change from Ile to Thr. 3/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). This variant is found in 80/122240 control chromosomes (1 homozygote) at a frequency of 0.0006545, which is about 3 times of maximal expected frequency of a pathogenic allele (0.0002188); and the variant is 26 fold higher in South Asians, highly suggesting this variant is a benign polymorphism found in South Asians. Additionally, at least one diagnostic clinical lab has classified this variant as likely benign. Taken together, this variant was classified as benign.
Invitae RCV000203950 SCV000259704 benign Familial cancer of breast 2017-12-06 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000588107 SCV000888812 benign not provided 2018-02-19 criteria provided, single submitter clinical testing

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