ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1009-1G>A

dbSNP: rs1555914382
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635904 SCV000757330 likely pathogenic Familial cancer of breast 2023-06-05 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. RNA analysis provides insufficient evidence to determine the effect of this variant on CHEK2 splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 530187). Disruption of this splice site has been observed in individual(s) referred for genetic testing (PMID: 32805687). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 9 of the CHEK2 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400).
Myriad Genetics, Inc. RCV000635904 SCV004045104 likely pathogenic Familial cancer of breast 2023-06-27 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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