ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.3G>T (p.Met1Ile)

dbSNP: rs786203977
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000540790 SCV000633179 uncertain significance Familial cancer of breast 2017-05-28 criteria provided, single submitter clinical testing In summary, this variant has uncertain impact on CHEK2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant has not been reported in the literature in individuals with a CHEK2-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change affects the initiator methionine of the CHEK2 mRNA. Because the nearest downstream methionine that can be used to initiate translation of CHEK2 lies at codon 46, it is not known if this variant results in an absent or disrupted protein product.

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