ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4185+10G>C (rs80358104)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000112277 SCV000488141 benign Breast-ovarian cancer, familial 1 2016-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000420424 SCV000512307 likely benign not specified 2017-02-14 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 RCV000469422 SCV000560262 likely benign Hereditary breast and ovarian cancer syndrome 2017-10-02 criteria provided, single submitter clinical testing
Color RCV000581943 SCV000688472 likely benign Hereditary cancer-predisposing syndrome 2015-02-17 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679695 SCV000806946 likely benign not provided 2017-07-20 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000420424 SCV000916706 uncertain significance not specified 2018-02-16 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.4185+10G>C alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing, leading to a significantly altered protein sequence. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 2.7e-05 in 7/263274 control chromosomes. This frequency is not significantly higher than expected for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (2.7e-05 vs 0.001), allowing no conclusion about variant significance. The c.4185+10G>C has been reported in the literature in individuals affected with Hereditary Breast and Ovarian Cancer. These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112277 SCV000145009 uncertain significance Breast-ovarian cancer, familial 1 2004-02-20 no assertion criteria provided clinical testing
Sharing Clinical Reports Project (SCRP) RCV000112277 SCV000297607 benign Breast-ovarian cancer, familial 1 2008-11-13 no assertion criteria provided clinical testing

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