ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.457A>C (p.Ser153Arg) (rs28897674)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131372 SCV000186348 likely benign Hereditary cancer-predisposing syndrome 2017-11-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Intact protein function observed in appropriate functional assay(s),Other data supporting benign classification
Breast Cancer Information Core (BIC) (BRCA1) RCV000031181 SCV000145588 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Color RCV000131372 SCV000683194 likely benign Hereditary cancer-predisposing syndrome 2017-05-02 criteria provided, single submitter clinical testing
Counsyl RCV000031181 SCV000489049 uncertain significance Breast-ovarian cancer, familial 1 2016-08-10 criteria provided, single submitter clinical testing
GeneDx RCV000212157 SCV000209913 likely benign not specified 2016-08-06 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 RCV000588983 SCV000699157 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.457A>C (p.Ser153Arg) variant involves the alteration of a non-conserved nucleotide. 3/4 in silico tools predict a damaging outcome for this variant (SNPs&GO not captured due to low reliability index). 5/5 splice prediction tools predict no significant impact on normal splicing. ESE finder predicts that this variant may affect several ESE sites at the locus. However, these predictions have yet to be confirmed by functional studies. This variant was found in the large control population database ExAC in 5/121410 control chromosomes, for a frequency of 0.0000412, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). One functional study in the literature suggests that the variant does not significantly affect BRCA1 function as demonstrated by two different DNA repair assays. In addition, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign of uncertain significance. Taken together, this variant is classified as VUS-possibly benign.
Invitae RCV000048598 SCV000076611 likely benign Hereditary breast and ovarian cancer syndrome 2017-12-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000031181 SCV000053781 likely benign Breast-ovarian cancer, familial 1 2013-01-18 no assertion criteria provided clinical testing

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