ClinVar Miner

Submissions for variant NM_000465.4(BARD1):c.1569-9T>C

gnomAD frequency: 0.00001  dbSNP: rs753153934
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001084504 SCV000557505 likely benign Familial cancer of breast 2023-12-23 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000579535 SCV000682711 likely benign Hereditary cancer-predisposing syndrome 2016-08-08 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000586189 SCV000696748 uncertain significance not provided 2017-08-16 criteria provided, single submitter clinical testing Variant summary: The BARD1 c.1569-9T>C variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. 3/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 2/121058 control chromosomes at a frequency of 0.0000165, which does not exceed the estimated maximal expected allele frequency of a pathogenic BARD1 variant (0.0002188). In addition, one clinical diagnostic laboratory classified this variant as likely benign, without evidence for independent evaluation. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a variant of uncertain significance (VUS) until additional information becomes available.
Myriad Genetics, Inc. RCV001084504 SCV005406410 likely benign Familial cancer of breast 2024-07-25 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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