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

Individual ID 00000865, 00005889, 00005900
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 7 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)     
Protein     
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) 06-aug-2018 Multigenetic panel - 1 Lina Nuñez-Private Practice
0000010096 DNA SEQ-NG;CNV CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2 24-feb-2026 Multigenetic panel - 2 Luisina Bruno-Instituto Fleming
0000010107 DNA SEQ-NG;CNV CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2 11-mar-2026 Multigenetic panel - 1 Luisina Bruno-Instituto Fleming

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