ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5193+3A>G

dbSNP: rs1060502326
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000474996 SCV000549266 likely benign Hereditary breast ovarian cancer syndrome 2023-11-09 criteria provided, single submitter clinical testing
Ambry Genetics RCV000562931 SCV000661034 likely benign Hereditary cancer-predisposing syndrome 2021-01-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Color Diagnostics, LLC DBA Color Health RCV000562931 SCV000910205 likely benign Hereditary cancer-predisposing syndrome 2018-01-01 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781031 SCV000918796 uncertain significance not specified 2018-11-16 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.5193+3A>G 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 was absent in 276920 control chromosomes (gnomAD). The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.5193+3A>G in individuals affected with Hereditary Breast and Ovarian Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Two ClinVar submissions from clinical diagnostic laboratories (evaluation after 2014) cite the variant as uncertain significance. Based on the evidence outlined above, the variant was classified as uncertain significance.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003477969 SCV004219442 likely benign not provided 2023-08-25 criteria provided, single submitter clinical testing
Brotman Baty Institute, University of Washington RCV001076962 SCV001242815 not provided Breast-ovarian cancer, familial, susceptibility to, 1 no assertion provided in vitro

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