ClinVar Miner

Submissions for variant NM_007194.4(CHEK2):c.1148C>A (p.Thr383Asn)

dbSNP: rs202089930
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214852 SCV000274271 uncertain significance Hereditary cancer-predisposing syndrome 2023-03-22 criteria provided, single submitter clinical testing The p.T383N variant (also known as c.1148C>A), located in coding exon 10 of the CHEK2 gene, results from a C to A substitution at nucleotide position 1148. The threonine at codon 383 is replaced by asparagine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000688848 SCV000816474 uncertain significance Familial cancer of breast 2023-08-10 criteria provided, single submitter clinical testing 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. 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. ClinVar contains an entry for this variant (Variation ID: 230649). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 383 of the CHEK2 protein (p.Thr383Asn).
CeGaT Center for Human Genetics Tuebingen RCV002262809 SCV002544709 uncertain significance not provided 2022-05-01 criteria provided, single submitter clinical testing CHEK2: PM2, BP1
Revvity Omics, Revvity RCV002262809 SCV003832008 uncertain significance not provided 2022-08-08 criteria provided, single submitter clinical testing
Baylor Genetics RCV000688848 SCV004217578 uncertain significance Familial cancer of breast 2023-09-01 criteria provided, single submitter clinical testing

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