ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.308T>C (p.Phe103Ser)

dbSNP: rs876658140
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214724 SCV000272980 uncertain significance Hereditary cancer-predisposing syndrome 2017-04-11 criteria provided, single submitter clinical testing The p.F103S variant (also known as c.308T>C), located in coding exon 1 of the CHEK2 gene, results from a T to C substitution at nucleotide position 308. The phenylalanine at codon 103 is replaced by serine, an amino acid with highly dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Invitae RCV000468739 SCV000550505 uncertain significance Familial cancer of breast 2023-07-27 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 103 of the CHEK2 protein (p.Phe103Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 229683). 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. 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.
Color Diagnostics, LLC DBA Color Health RCV000214724 SCV000684627 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-17 criteria provided, single submitter clinical testing
Mendelics RCV000468739 SCV000839502 uncertain significance Familial cancer of breast 2018-07-02 criteria provided, single submitter clinical testing

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