chr11:108272813:ATC>TGAT Detail (hg38) (ATM)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:108,143,540-108,143,542 View the variant detail on this assembly version. |
| hg38 | chr11:108,272,813-108,272,815 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000051.3:c.3245_3247delinsTGAT | NP_000042.3:p.His1082LeufsTer14 |
| NM_001351834.1:c.3245_3247delinsTGAT | NP_001338763.1:p.His1082LeufsTer14 | |
| Ensemble | ENST00000278616.10:c.3245_3247delinsTGAT | ENST00000278616.10:p.His1082LeufsTer14 |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2024-01-21 | criteria provided, multiple submitters, no conflicts | Ataxia-telangiectasia syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-05-04 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
Pathogenic
Likely pathogenic
|
2021-12-28 | criteria provided, multiple submitters, no conflicts | not provided |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-03-09 | reviewed by expert panel | Familial cancer of breast |
germline
unknown
|
Detail |
|
Pathogenic
|
2019-06-17 | criteria provided, single submitter | Ataxia-telangiectasia syndrome,Breast cancer, susceptibility to |
germline
|
Detail |
|
Pathogenic
|
2019-06-17 | criteria provided, single submitter | Ataxia-telangiectasia syndrome,Breast cancer, susceptibility to |
germline
|
Detail |
|
Pathogenic
|
2022-04-09 | criteria provided, single submitter | Familial cancer of breast,Ataxia-telangiectasia syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-04-09 | criteria provided, single submitter | Familial cancer of breast,Ataxia-telangiectasia syndrome |
unknown
|
Detail |
|
Pathogenic
|
2023-05-23 | criteria provided, single submitter | ATM-related disorder |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.709 | ataxia telangiectasia | NA | CLINVAR | Detail | |
| 0.120 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
| NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) AND not provided | ClinVar | Detail |
| NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) AND Familial cancer of breast | ClinVar | Detail |
| NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) AND multiple conditions | ClinVar | Detail |
| NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) AND multiple conditions | ClinVar | Detail |
| NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) AND multiple conditions | ClinVar | Detail |
| NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) AND multiple conditions | ClinVar | Detail |
| NM_000051.4(ATM):c.3245_3247delinsTGAT (p.His1082fs) AND ATM-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
- rs587776549 dbSNP
- Genome
- hg38
- Position
- chr11:108,272,813-108,272,815
- Variant Type
- snv
- Reference Allele
- ATC
- Alternative Allele
- TGAT
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