chr22:29091846:G>A Detail (hg19) (CHEK2)

Information

Genome

Assembly Position
hg19 chr22:29,091,846-29,091,846
hg38 chr22:28,695,858-28,695,858 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001005735.1:c.1240C>T NP_001005735.1:p.His414Tyr
NM_001257387.1:c.1024C>T NP_001244316.1:p.His342Tyr
NM_145862.2:c.1024C>T NP_665861.1:p.His342Tyr
Summary

MGeND

Clinical significance Uncertain significance not provided
Variant entry 77
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.004

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 604373 OMIM
HGNC 16627 HGNC
Ensembl ENSG00000183765 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv65642824 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided stomach, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000041
(TMGS000094)
Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2018/12/05 colon, unspecified germline MGS000029
(TMGS000133)
Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2018/12/05 colon, unspecified germline MGS000029
(TMGS000133)
Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2018/12/05 other germline MGS000029
(TMGS000133)
Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2019/03/19 malignant melanoma of skin, unspecified germline MGS000029
(TMGS000133)
Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2018/05/09 retina germline MGS000029
(TMGS000133)
Hitoshi Nakagama National Cancer Center Japan
Uncertain significance 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049)
Yukihide Momozawa RIKEN 30287823
Uncertain significance Transitional cell carcinoma of bladder (disorder) unknown MGS000021
(TMGS000080)
Manabu Muto Kyoto University
Uncertain significance 2021/03/19 control germline MGS000047
(TMGS000111)
Yukihide Momozawa
Koichi Matsuda
RIKEN
The University of Tokyo
Uncertain significance 2021/03/19 breast germline MGS000048
(TMGS000112)
Yukihide Momozawa
Koichi Matsuda
RIKEN
The University of Tokyo
Uncertain significance 2021/03/19 prostate germline MGS000049
(TMGS000113)
Yukihide Momozawa
Koichi Matsuda
RIKEN
The University of Tokyo
Uncertain significance 2021/03/19 Colorectal germline MGS000050
(TMGS000114)
Yukihide Momozawa
Koichi Matsuda
RIKEN
The University of Tokyo
Uncertain significance 2021/03/19 pancreatic germline MGS000051
(TMGS000115)
Yukihide Momozawa
Koichi Matsuda
RIKEN
The University of Tokyo
not provided malignant neoplasm of rectum not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided head of pancreas not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
not provided bronchus or lung, unspecified not provided MGS000042
(TMGS000093)
Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2021-11-22 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2024-01-31 criteria provided, multiple submitters, no conflicts Familial cancer of breast germline unknown Detail
Uncertain significance 2024-02-06 criteria provided, multiple submitters, no conflicts not specified germline Detail
Conflicting interpretations of pathogenicity 2023-09-01 criteria provided, conflicting interpretations not provided germline unknown Detail
Uncertain significance 2017-08-31 criteria provided, single submitter Breast neoplasm germline Detail
Uncertain significance 2019-05-01 criteria provided, single submitter hereditary breast ovarian cancer syndrome germline Detail
Uncertain significance no assertion criteria provided unknown Detail
Uncertain significance 2021-03-19 no assertion criteria provided Neoplasm of ovary,lung cancer,Familial cancer of breast somatic Detail
Uncertain significance 2021-03-19 no assertion criteria provided Neoplasm of ovary,lung cancer,Familial cancer of breast somatic Detail
Uncertain significance 2021-03-19 no assertion criteria provided Neoplasm of ovary,lung cancer,Familial cancer of breast somatic Detail
Uncertain significance 2022-02-07 criteria provided, single submitter Familial cancer of breast,colorectal cancer,Li-Fraumeni syndrome 2,bone osteosarcoma,Malignant tumor of prostate unknown Detail
Uncertain significance 2022-02-07 criteria provided, single submitter Familial cancer of breast,colorectal cancer,Li-Fraumeni syndrome 2,bone osteosarcoma,Malignant tumor of prostate unknown Detail
Uncertain significance 2022-02-07 criteria provided, single submitter Familial cancer of breast,colorectal cancer,Li-Fraumeni syndrome 2,bone osteosarcoma,Malignant tumor of prostate unknown Detail
Uncertain significance 2022-02-07 criteria provided, single submitter Familial cancer of breast,colorectal cancer,Li-Fraumeni syndrome 2,bone osteosarcoma,Malignant tumor of prostate unknown Detail
Uncertain significance 2022-02-07 criteria provided, single submitter Familial cancer of breast,colorectal cancer,Li-Fraumeni syndrome 2,bone osteosarcoma,Malignant tumor of prostate unknown Detail
Uncertain significance 2023-02-14 criteria provided, single submitter bone osteosarcoma germline Detail
Uncertain significance 2023-03-27 criteria provided, single submitter CHEK2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.127 Breast Cancer, Familial NA CLINVAR Detail
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND Familial cancer of breast ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND not specified ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND not provided ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND Breast neoplasm ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND Hereditary breast ovarian cancer syndrome ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND Malignant tumor of breast ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND multiple conditions ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND Bone osteosarcoma ClinVar Detail
NM_007194.4(CHEK2):c.1111C>T (p.His371Tyr) AND CHEK2-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs531398630 dbSNP
Genome
hg19
Position
chr22:29,091,846-29,091,846
Variant Type
snv
Reference Allele
G
Alternative Allele
A
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs531398630
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0005
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8650
East Asian Allele Counts (ExAC)
33
East Asian Heterozygous Counts (ExAC)
33
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.003815028901734104
Chromosome Counts in All Race (ExAC)
118554
Allele Counts in All Race (ExAC)
58
Heterozygous Counts in All Race (ExAC)
54
Homozygous Counts in All Race (ExAC)
2
Allele Frequency in All Race (ExAC)
4.892285372066738E-4
Genome browser