ClinVar Miner

Submissions for variant NM_007294.3(BRCA1):c.5194-18G>T (rs80358090)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200417 SCV000253512 likely benign Hereditary breast and ovarian cancer syndrome 2020-12-02 criteria provided, single submitter clinical testing
Counsyl RCV000112557 SCV000488724 likely benign Breast-ovarian cancer, familial 1 2016-06-01 criteria provided, single submitter clinical testing
Color Health, Inc RCV000579447 SCV000683269 likely benign Hereditary cancer-predisposing syndrome 2016-01-05 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781030 SCV000918795 likely benign not specified 2018-11-13 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.5194-18G>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. 5/5 computational tools predict no significant impact on normal splicing. One functional study did not find splicing defects (Thery_2011). The variant allele was found at a frequency of 5.4e-05 in 277236 control chromosomes, predominantly at a frequency of 0.00058 within the African subpopulation in the gnomAD database. This frequency is not significantly higher than expected for a pathogenic variant in BRCA1 causing Hereditary Breast and Ovarian Cancer (5.4e-05 vs 0.001), allowing no conclusion about variant significance. The variant, c.5194-18G>T, has been reported in the literature in individuals at risk for Hereditary Breast and Ovarian Cancer (Judkins_2005). This report does not provide unequivocal conclusions about association of the variant with Hereditary Breast and Ovarian Cancer. To our knowledge, no other 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 likely benign. Based on the evidence outlined above, the variant was classified as likely benign.
Breast Cancer Information Core (BIC) (BRCA1) RCV000112557 SCV000145386 uncertain significance Breast-ovarian cancer, familial 1 1998-04-02 no assertion criteria provided clinical testing

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