ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.4185+9C>T (rs80358034)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000083050 SCV000488564 likely benign Breast-ovarian cancer, familial 1 2016-05-04 criteria provided, single submitter clinical testing
GeneDx RCV000438146 SCV000515772 likely benign not specified 2017-10-24 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 RCV001088284 SCV000560308 likely benign Hereditary breast and ovarian cancer syndrome 2020-11-15 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587259 SCV000605868 likely benign not provided 2018-11-02 criteria provided, single submitter clinical testing
Color Health, Inc RCV000580442 SCV000683159 likely benign Hereditary cancer-predisposing syndrome 2016-07-22 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000438146 SCV000699116 likely benign not specified 2020-06-29 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.4185+9C>T 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. 3/5 tools predict that this variant may create a novel alternate 5' splicing donor site within the intron. However, experimental evidence evaluating an impact of the variant showed wild type splicing was not affected (Whiley_2011). The variant allele was found at a frequency of 1.3e-05 in 237850 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. c.4185+9C>T has been reported in the literature in individuals affected with Breast Cancer (example, Whiley_2011, Hondow_2011, Judkins_2005, Flower_2015). These report(s) do not provide unequivocal conclusions about association of the variant with Hereditary Breast And Ovarian Cancer Syndrome. Five 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 likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Sharing Clinical Reports Project (SCRP) RCV000083050 SCV000115124 likely benign Breast-ovarian cancer, familial 1 2011-05-05 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000083050 SCV000145017 uncertain significance Breast-ovarian cancer, familial 1 2002-05-29 no assertion criteria provided clinical testing

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