ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1904-5G>A

gnomAD frequency: 0.00003  dbSNP: rs376639978
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000165063 SCV000215764 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-02 criteria provided, single submitter clinical testing The c.1904-5G>A intronic variant results from a G to A substitution 5 nucleotides upstream from coding exon 10 in the BARD1 gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000635980 SCV000757410 likely benign Familial cancer of breast 2024-01-24 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000165063 SCV000908560 likely benign Hereditary cancer-predisposing syndrome 2017-06-02 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251377 SCV001426951 uncertain significance not specified 2020-07-30 criteria provided, single submitter clinical testing Variant summary: BARD1 c.1904-5G>A 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. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 4e-06 in 251174 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.1904-5G>A in individuals affected with Breast Cancer and no experimental evidence demonstrating its impact on protein function have been reported. Three ClinVar submitters (evaluation after 2014) cite the variant as likely benign (n=2) and as uncertain significance (n=1). Based on the evidence outlined above, the variant was classified as uncertain significance.
GeneDx RCV001711443 SCV001939297 benign not provided 2015-03-03 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000165063 SCV002529558 uncertain significance Hereditary cancer-predisposing syndrome 2021-12-16 criteria provided, single submitter curation

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