ClinVar Miner

Submissions for variant NM_007294.4(BRCA1):c.5468-10_5468-9del

dbSNP: rs273902770
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001080376 SCV000253516 benign Hereditary breast ovarian cancer syndrome 2025-01-23 criteria provided, single submitter clinical testing
GeneDx RCV000196957 SCV000566231 likely benign not provided 2019-08-09 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000478075 SCV000699258 likely benign not specified 2024-11-11 criteria provided, single submitter clinical testing Variant summary: BRCA1 c.5468-10_5468-9delCT alters a nucleotide located at a position not widely known to affect splicing. Consensus agreement among computation 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 8.8e-05 in 250484 control chromosomes, predominantly at a frequency of 0.00055 within the Latino subpopulation in the gnomAD database. This frequency is not significantly higher than estimated for a pathogenic variant in BRCA1 causing Hereditary Breast And Ovarian Cancer Syndrome (8.8e-05 vs 0.001), allowing no conclusion about variant significance. c.5468-10_5468-9delCT has been reported in the literature in individuals with breast cancer (Vogel_2007), but without evidence for causality. These report(s) do 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. The following publication has been ascertained in the context of this evaluation (PMID: 17925560). ClinVar contains an entry for this variant (Variation ID: 91652). Based on the evidence outlined above, the variant was classified as likely benign.
Color Diagnostics, LLC DBA Color Health RCV000771308 SCV000903562 likely benign Hereditary cancer-predisposing syndrome 2017-11-09 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000196957 SCV001133637 benign not provided 2022-10-29 criteria provided, single submitter clinical testing
Sharing Clinical Reports Project (SCRP) RCV000077169 SCV000108966 benign Breast-ovarian cancer, familial, susceptibility to, 1 2011-10-27 no assertion criteria provided clinical testing
Breast Cancer Information Core (BIC) (BRCA1) RCV000077169 SCV000145528 uncertain significance Breast-ovarian cancer, familial, susceptibility to, 1 2003-12-23 no assertion criteria provided clinical testing

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