ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4186-10G>A (rs80358172)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000212182 SCV000210170 likely benign not specified 2017-12-11 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.
Genetic Services Laboratory, University of Chicago RCV000212182 SCV000593679 uncertain significance not specified 2016-08-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000212182 SCV000605869 uncertain significance not specified 2017-04-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000589275 SCV000699117 benign not provided 2016-04-22 criteria provided, single submitter clinical testing Variant summary: The c.4186-10G>A in BRCA1 gene is an intronic change that involves a non-conserved nucleotide. 4/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant is present in the control population dataset of ExAC, mainly in individuals of East Asian descent at frequency of 0.17%, including one homozygous occurrence. The observed frequency exceeds the maximum expected allele frequency for a pathogenic BRCA1 variant, suggesting that it is a polymorphism. The fact that c.4186-10G>A has been reported to co-occur with two different deleterious mutation in BRCA1 gene (c.3700_3704delGTAAA and c.3759_3760delTA) suggests a non-disease causing nature of this variant. In addition, the variant has been reported as Polymorphismin published reports (Soumittra, 2009). Taken together, this variant has been classified as Benign.
Counsyl RCV000112287 SCV000785402 likely benign Breast-ovarian cancer, familial 1 2017-07-24 criteria provided, single submitter clinical testing
Color RCV000771225 SCV000903320 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000112287 SCV000145019 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112287 SCV000297608 benign Breast-ovarian cancer, familial 1 2010-09-13 no assertion criteria provided clinical testing

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