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 |
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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 |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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stomach, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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2018/12/05 | colon, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2018/12/05 | colon, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2018/12/05 | other |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2019/03/19 | malignant melanoma of skin, unspecified |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2018/05/09 | retina |
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MGS000029
(TMGS000133) |
Hitoshi Nakagama | National Cancer Center Japan | |||
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2018/01/13 | breast, unspecified |
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MGS000028
(TMGS000049) |
Yukihide Momozawa | RIKEN |
30287823
|
||
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Transitional cell carcinoma of bladder (disorder) |
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MGS000021
(TMGS000080) |
Manabu Muto | Kyoto University | ||||
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2021/03/19 | control |
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MGS000047
(TMGS000111) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
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2021/03/19 | breast |
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MGS000048
(TMGS000112) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
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2021/03/19 | prostate |
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MGS000049
(TMGS000113) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
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2021/03/19 | Colorectal |
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MGS000050
(TMGS000114) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
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2021/03/19 | pancreatic |
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MGS000051
(TMGS000115) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
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malignant neoplasm of rectum |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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head of pancreas |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | ||||
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bronchus or lung, unspecified |
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MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2021-11-22 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
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Detail |
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2024-01-31 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
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Detail |
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2024-02-06 | criteria provided, multiple submitters, no conflicts | not specified |
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Detail |
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2023-09-01 | criteria provided, conflicting interpretations | not provided |
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Detail |
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2017-08-31 | criteria provided, single submitter | Breast neoplasm |
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Detail |
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2019-05-01 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
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Detail |
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no assertion criteria provided |
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Detail | ||
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2021-03-19 | no assertion criteria provided | Neoplasm of ovary,lung cancer,Familial cancer of breast |
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Detail |
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2021-03-19 | no assertion criteria provided | Neoplasm of ovary,lung cancer,Familial cancer of breast |
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Detail |
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2021-03-19 | no assertion criteria provided | Neoplasm of ovary,lung cancer,Familial cancer of breast |
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Detail |
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2022-02-07 | criteria provided, single submitter | Familial cancer of breast,colorectal cancer,Li-Fraumeni syndrome 2,bone osteosarcoma,Malignant tumor of prostate |
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Detail |
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2022-02-07 | criteria provided, single submitter | Familial cancer of breast,colorectal cancer,Li-Fraumeni syndrome 2,bone osteosarcoma,Malignant tumor of prostate |
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Detail |
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2022-02-07 | criteria provided, single submitter | Familial cancer of breast,colorectal cancer,Li-Fraumeni syndrome 2,bone osteosarcoma,Malignant tumor of prostate |
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Detail |
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2022-02-07 | criteria provided, single submitter | Familial cancer of breast,colorectal cancer,Li-Fraumeni syndrome 2,bone osteosarcoma,Malignant tumor of prostate |
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Detail |
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2022-02-07 | criteria provided, single submitter | Familial cancer of breast,colorectal cancer,Li-Fraumeni syndrome 2,bone osteosarcoma,Malignant tumor of prostate |
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Detail |
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2023-02-14 | criteria provided, single submitter | bone osteosarcoma |
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Detail |
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2023-03-27 | criteria provided, single submitter | CHEK2-related disorder |
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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
Descrption | Source | Links |
---|---|---|
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
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