ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.4186-10G>A

dbSNP: rs80358172
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Total submissions: 12
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000589275 SCV000210170 likely benign not provided 2019-07-02 criteria provided, single submitter clinical testing In-silico analysis, which includes splice predictors and evolutionary conservation, is inconclusive as to whether the variant alters gene splicing. In the absence of RNA/functional studies, the actual effect of this sequence change is unknown.; This variant is associated with the following publications: (PMID: 18627636, 16267036, 25561518, 26269718, 28222693, 29280214)
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 RCV000589275 SCV000605869 benign not provided 2020-10-13 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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, susceptibility to, 1 2017-07-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771225 SCV000903320 likely benign Hereditary cancer-predisposing syndrome 2017-08-21 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000589275 SCV001472093 likely benign not provided 2020-08-03 criteria provided, single submitter clinical testing
Invitae RCV001514091 SCV001721844 benign Hereditary breast ovarian cancer syndrome 2021-12-11 criteria provided, single submitter clinical testing
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State RCV001514091 SCV002025942 likely benign Hereditary breast ovarian cancer syndrome 2021-11-16 criteria provided, single submitter clinical testing
Sema4,Sema4 RCV000771225 SCV002538270 benign Hereditary cancer-predisposing syndrome 2021-04-30 criteria provided, single submitter curation
Breast Cancer Information Core (BIC) (BRCA1) RCV000112287 SCV000145019 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2002-05-29 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112287 SCV000297608 benign Breast-ovarian cancer, familial, susceptibility to, 1 2010-09-13 no assertion criteria provided clinical testing

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