ClinVar Miner

Submissions for variant NM_007300.4(BRCA1):c.5068G>T (p.Ala1690Ser) (rs80357087)

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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000034757 SCV000076749 benign not provided 2019-03-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000130911 SCV000185820 likely benign Hereditary cancer-predisposing syndrome 2017-09-13 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
GeneDx RCV000048736 SCV000209983 likely benign not specified 2017-09-11 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.
Counsyl RCV000112461 SCV000220738 likely benign Breast-ovarian cancer, familial 1 2014-09-26 criteria provided, single submitter literature only
Centre for Mendelian Genomics,University Medical Centre Ljubljana RCV000414907 SCV000492641 uncertain significance Breast carcinoma 2015-11-13 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000048736 SCV000538451 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Multiple reports describe as nonpathogenic; ClinVar: 4 B/LB, 2 VUS
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000048736 SCV000591561 likely benign not specified 2015-06-30 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000048736 SCV000593657 likely benign not specified 2016-10-26 criteria provided, single submitter clinical testing
Color RCV000130911 SCV000683240 likely benign Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000034757 SCV000699192 benign not provided 2016-03-23 criteria provided, single submitter clinical testing Variant Summary: The variant of interest causes a missense change involving a conserved nucleotide with 3/4 in silico programs (SNPs&Go effect not captured here due to low reliability index) predict a "deleterious" outcome. The variant of interest was observed in the large, broad control population, ExAC, with an allele frequency 6/121254 (1/20210), which does not exceed the predicted maximum expected allele frequency for a pathogenic BRCA1 variant of 1/1000. The variant of interest has been reported in affected individuals via publications including a co-occurrence with another pathogenic BRCA1 variant 2080delA (Judkins_2005) and a lack of co-segregation with disease (Vallon-Christersson_2001). Multiple functional studies showed the variant of interest to act comparable to wild type. In addition, multiple reputable databases/clinical laboratories cite the variant with a classification of "likely benign/benign." Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000034757 SCV000043152 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) RCV000112461 SCV000145259 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
CSER _CC_NCGL, University of Washington RCV000148380 SCV000190078 likely benign Breast and/or ovarian cancer 2014-06-01 no assertion criteria provided research

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