ClinVar Miner

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

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001084169 SCV000289793 benign Hereditary breast and ovarian cancer syndrome 2020-12-04 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001281725 SCV000296460 uncertain significance not provided 2020-01-03 criteria provided, single submitter clinical testing
GeneDx RCV000421135 SCV000531311 likely benign not specified 2017-09-25 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.
Color Health, Inc RCV000581043 SCV000683157 likely benign Hereditary cancer-predisposing syndrome 2017-03-23 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000421135 SCV000699115 uncertain significance not specified 2020-09-29 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.4185+10G>A 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. 4/4 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 1.3e-05 in 237410 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4185+10G>A has been reported in the literature in patients from hereditary breast/ovarian cancer families who underwent clinical BRCA1 screening (Judkins_2005). The report does not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Five ClinVar submitters (evaluation after 2014) cite the variant as uncertain significance (1x), likely benign (3x) and benign (1x). Based on the evidence outlined above, the variant was classified as VUS-possibly benign.
Counsyl RCV000083048 SCV000784871 likely benign Breast-ovarian cancer, familial 1 2017-01-18 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000083048 SCV000115122 benign Breast-ovarian cancer, familial 1 2011-09-16 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083048 SCV000145008 uncertain significance Breast-ovarian cancer, familial 1 2010-12-17 no assertion criteria provided clinical testing

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