ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.2735A>G (p.Lys912Arg) (rs397507204)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131972 SCV000187030 likely benign Hereditary cancer-predisposing syndrome 2018-07-21 criteria provided, single submitter clinical testing In silico models in agreement (benign)
GeneDx RCV000159877 SCV000209945 likely benign not specified 2017-03-26 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.
Invitae RCV001088847 SCV000549295 likely benign Hereditary breast and ovarian cancer syndrome 2020-10-15 criteria provided, single submitter clinical testing
Color Health, Inc RCV000131972 SCV000688399 likely benign Hereditary cancer-predisposing syndrome 2017-07-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588317 SCV000698976 uncertain significance not provided 2017-03-24 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.2735A>G (p.Lys912Arg) variant causes a missense change involving 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). Lys912 is not highly conserved across species and is not located in a known functional domain of the BRCA1 protein. The variant of interest has been found in a large, broad control population, ExAC, in 4/121364 control chromosomes, predominantly observed in the Latino subpopulation at a frequency of 0.000346 (4/11560). These frequencies are less than the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). However, multiple clinical diagnostic laboratories/reputable databases classified this variant as likely benign/benign without evidence for independent review. The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Sharing Clinical Reports Project (SCRP) RCV000031068 SCV000053664 benign Breast-ovarian cancer, familial 1 2011-11-04 no assertion criteria provided clinical testing

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