Variant #0000005951 (NC_000022.11:g.28695219G>A, CHEK2(NM_007194.3):c.1283C>T)

Individual ID 00000865
Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Probably affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.28695219G>A
Reference -
DB-ID CHEK2_000020 See all 4 reported entries
dbSNP ID -
Variant remarks The c.1283C>T (p.Ser428Phe) variant is well described in the literature, and is thought to be a founder variant in the Ashkenazi Jewish population (Shaag et al. 2005). This variant is a low penetrance allele, resulting in a two-fold increase in breast cancer risk for women over 50.
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     
AscendingTranscript     
Affects function     
Exon     
DNA change (cDNA)     
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Zygosity     
Co_ocurrence     
RNA change     
Review status     
CHEK2 NM_007194.3 +/+? 12 c.1283C>T p.(Ser428Phe) Hetero N/A r.(?) RECLASSIFIED JUNE 2022. RISK FACTOR.



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000001024 DNA SEQ-NG GENDA;COLOR Hereditary Cancer Risk Test (30 genes) 6-aug-2018 Multigenetic panel - 1 Lina Nuñez-Private Practice

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