Variant #0000011394 (NC_000022.11:g.28694066G>A, CHEK2(NM_007194.4):c.1427C>T)

Individual ID 00004282, 00005189, 00005240
Chromosome 22
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.28694066G>A
Reference -
DB-ID CHEK2_000006 See all 7 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Guillermo Alberto-Instituto Fleming
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_007194.4 ?/? 13 c.1427C>T p.(Thr476Met) Hetero no r.? -



Screenings


AscendingScreening ID     
Template     
Technique     
Lab     
Remarks     
Date of test     
Type of test     
Genes screened     
Variants found     
Owner     
0000004620 DNA SEQ-NG CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS Hereditary cancer panel (NGS) — Gene panel: 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 27-May-2025 Multigenetic panel - 2 Guillermo Alberto-Instituto Fleming
0000009373 DNA SEQ-NG 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 MSH2 MSH3 MSH6 MUTYH NBN NF1 NTHL1 PALB2 PMS2 POLD1 POLE PTEN RAD50 RAD51C RAD51D RINT1 SMAD4 SMARCA4 STK11 TP53 XRCC2 14-Aug-2025 Multigenetic panel - 2 Luisina Bruno-Instituto Fleming
0000009424 DNA SEQ-NG DIAGNUS LAB ABRAXAS1, AIP, ALK, ANKRD26, APC, ATM, ATR, AXIN2, BAP1, BARD1, BLM, BMPR1A, BRAF, BRCA1, BRCA2, BRIP1, BUB1B, CASR, CBL, CD70, CDC73, CDH1, CDK4, CDKN1B, CDKN1C, CDKN2A, CEBPA, CEP57, CHEK2, CTC1, CTNNA1, CYLD, DDB2, DDX41, DICER1, DIS3L2, DKC1, EFL1, EGFR, EGLN1, ELANE, EPCAM, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, ETV6, EXO1, EXT1, EXT2, EZH2, FAM111B, FAN1, FANCA, FANCB, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCL, FANCM, FH, FLCN, GAA, GALNT12, GATA2, GBA, GLA, GPC3, GPR101, GREM1, HAVCR2, HDAC2, HNF1A, HNF1B, HOXB13, HRAS, IDUA, IKZF1, KIF1B, KIT, KITLG, KMT2D, KRAS, LZTR1, MAP2K1, MAP2K2, MAX, MBD4, MC1R, MDH2, MEN1, MERTK, MET, MITF, MLH1, MLH3, MRE11, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NF2, NHP2, NOP10, NRAS, NSD1, NSUN2, NTHL1, PALB2, PAX5, PDGFRA, PHOX2B, PMS1, PMS2, POLD1, POLE, POLH, POT1, PPM1D, PRF1, PRKAR1A, PRSS1, PTCH1, PTCH2, PTEN, PTPN11, RAD50, RAD51C, RAD51D, RAF1, RASA2, RB1, RECQL, RECQL4, REST, RET, RHBDF2, RIT1, RNF43, RPS20, RRAS, RUNX1, SAMD9, SAMD9L, SBDS, SDHA, SDHAF2, SDHB, SDHC, SDHD, SHOC2, SLX4, SMAD4, SMARCA4, SMARCB1, SMARCE1, SOS1, SOS2, SPRED1, SRP72, STK11, SUFU, TERT, TGFBR2, TINF2, TMEM127, TP53, TRIP13, TSC1, TSC2, TYR, VHL, WRAP53, WRN, WT1, XPA, XPC, XRCC2, XRCC3 19-May-2025 Multigenetic panel - 1 Claudia Martin-Hospital de Córdoba

  Powered by LOVD v.3.0 Build 29
LOVD software ©2004-2023 Leiden University Medical Center 		There is an LOVD update available.