ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1276C>T (p.Pro426Ser)

dbSNP: rs1555913523
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000662711 SCV000785459 uncertain significance Familial cancer of breast 2017-08-14 criteria provided, single submitter clinical testing
Invitae RCV000662711 SCV002252585 uncertain significance Familial cancer of breast 2023-12-01 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 426 of the CHEK2 protein (p.Pro426Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with breast cancer (PMID: 21244692). ClinVar contains an entry for this variant (Variation ID: 548774). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Myriad Genetics, Inc. RCV000662711 SCV004020064 uncertain significance Familial cancer of breast 2023-03-07 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

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