Submissions for variant NM_007194.4(CHEK2):c.1392G>T (p.Lys464Asn)

dbSNP: rs764396738

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000635766	SCV000757188	uncertain significance	Familial cancer of breast	2023-03-11	criteria provided, single submitter	clinical testing	This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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: 530112). This variant is present in population databases (rs764396738, gnomAD 0.0009%). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 464 of the CHEK2 protein (p.Lys464Asn).
Mendelics	RCV000635766	SCV000839457	uncertain significance	Familial cancer of breast	2018-07-02	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV002509482	SCV002819155	uncertain significance	Hereditary cancer-predisposing syndrome	2023-01-10	criteria provided, single submitter	clinical testing
Baylor Genetics	RCV000635766	SCV004217625	uncertain significance	Familial cancer of breast	2023-07-21	criteria provided, single submitter	clinical testing