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 RCV000587259 SCV000560308 likely benign not provided 2019-01-28 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 RCV000580442 SCV000683159 likely benign Hereditary cancer-predisposing syndrome 2016-07-22 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587259 SCV000699116 uncertain significance not provided 2016-11-14 criteria provided, single submitter clinical testing Variant summary: The BRCA1 c.4185+9C>T variant involves the alteration of a non-conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 5/5 splice prediction tools predict no significant impact on normal splicing, while 3/5 tools predict that this variant may create a novel 5' splicing donor site. However, functional study in the patients who carry this variant showed wild type splicing was not affected. This variant was found in 2/79182 control chromosomes at a frequency of 0.0000253, which does not exceed the estimated maximal expected allele frequency of a pathogenic BRCA1 variant (0.0010005). In addition, multiple clinical diagnostic laboratories/literatures classified this variant as likely benign. Taken together, this variant is classified as VUS-possibly 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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