chr11:108289005:C>T Detail (hg38) (ATM)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:108,159,732-108,159,732 View the variant detail on this assembly version. |
| hg38 | chr11:108,289,005-108,289,005 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000051.3:c.4138C>T | NP_000042.3:p.His1380Tyr |
| NM_001351834.1:c.4138C>T | NP_001338763.1:p.His1380Tyr | |
| Ensemble | ENST00000278616.10:c.4138C>T | ENST00000278616.10:p.His1380Tyr |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.040 |
| ToMMo:0.038 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.016 |
Prediction
ClinVar
| Clinical Significance |
Benign
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Benign
|
2023-08-15 | criteria provided, multiple submitters, no conflicts | not specified |
germline
|
Detail |
|
Benign
|
2020-02-24 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Benign
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | Ataxia-telangiectasia syndrome |
germline
|
Detail |
|
Benign
|
2023-11-06 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Benign
|
2022-04-19 | criteria provided, single submitter | hereditary breast ovarian cancer syndrome |
germline
|
Detail |
|
Benign
|
2021-12-07 | criteria provided, single submitter | Breast and/or ovarian cancer |
germline
|
Detail |
|
Benign
|
2023-07-07 | criteria provided, single submitter | Familial cancer of breast |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.157 | Leukemia, Myelocytic, Acute | Postchemotherapy response analysis revealed that AML patients heterozygous for A... | BeFree | 20232390 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) AND not specified | ClinVar | Detail |
| NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
| NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) AND not provided | ClinVar | Detail |
| NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) AND Hereditary breast ovarian cancer syndrome | ClinVar | Detail |
| NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) AND Breast and/or ovarian cancer | ClinVar | Detail |
| NM_000051.4(ATM):c.4138C>T (p.His1380Tyr) AND Familial cancer of breast | ClinVar | Detail |
| Postchemotherapy response analysis revealed that AML patients heterozygous for ATM 4138C>T (rs309... | 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
- rs3092856 dbSNP
- Genome
- hg38
- Position
- chr11:108,289,005-108,289,005
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 133.48
- Standard deviation of sample read depth (HGVD)
- 62.09
- Number of reference allele (HGVD)
- 2324
- Number of alternative allele (HGVD)
- 96
- Allele Frequency (HGVD)
- 0.03966942148760331
- Gene Symbol (HGVD)
- ATM
- 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))
- rs3092856
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0382
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 640
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16758
- East Asian Chromosome Counts (ExAC)
- 8648
- East Asian Allele Counts (ExAC)
- 142
- East Asian Heterozygous Counts (ExAC)
- 138
- East Asian Homozygous Counts (ExAC)
- 2
- East Asian Allele Frequency (ExAC)
- 0.016419981498612395
- Chromosome Counts in All Race (ExAC)
- 121304
- Allele Counts in All Race (ExAC)
- 1755
- Heterozygous Counts in All Race (ExAC)
- 1653
- Homozygous Counts in All Race (ExAC)
- 51
- Allele Frequency in All Race (ExAC)
- 0.014467783420167513
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