ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.260+4G>A

dbSNP: rs1389301978
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001202557 SCV001373673 likely benign Hereditary nonpolyposis colorectal neoplasms 2023-05-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV003293994 SCV003997400 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-26 criteria provided, single submitter clinical testing The c.260+4G>A intronic variant results from a G to A substitution 4 nucleotides after coding exon 1 in the MSH6 gene. This nucleotide position is 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.
Color Diagnostics, LLC DBA Color Health RCV003293994 SCV004356783 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-21 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +4 position of intron 1 of the MSH6 gene. To our knowledge, functional studies have not been reported for this variant. Splice site prediction tools suggest that this variant may not have an impact on RNA splicing. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
All of Us Research Program, National Institutes of Health RCV004010621 SCV004825218 uncertain significance Lynch syndrome 2023-08-15 criteria provided, single submitter clinical testing This variant causes a G to A nucleotide substitution at the +4 position of intron 1 of the MSH6 gene. To our knowledge, functional studies have not been reported for this variant. Splice site prediction tools suggest that this variant may not have an impact on RNA splicing. This variant has not been reported in individuals affected with MSH6-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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