chr11:108179837:A>G Detail (hg19) (ATM, C11orf65)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:108,179,837-108,179,837 |
| hg38 | chr11:108,309,110-108,309,110 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000051.3:c.5763-1050A>G | |
| NM_001351834.1:c.5763-1050A>G | ||
| Ensemble | ENST00000278616.10:c.5763-1050A>G |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001330368.1:c.641-39T>C | |
| Ensemble | ENST00000525729.5:c.641-39T>C |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
ClinVar
| Clinical Significance |
Pathogenic
Likely pathogenic
|
| Review star |  |
| Show details | |
Links
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | 607585 | OMIM |
| HGNC | 795 | HGNC | |
| Ensembl | ENSG00000149311 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
| Type | Database | ID | Link |
|---|---|---|---|
| Gene | MIM | ||
| HGNC | 28519 | HGNC | |
| Ensembl | ENSG00000166323 | Ensembl | |
| NCBI | NCBI | ||
| Gene Cards | Gene Cards | ||
| OncoKB | OncoKB |
| Type | Database | ID | Link |
|---|---|---|---|
| Variant | TogoVar | ||
| COSMIC | |||
| MONDO |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2004-06-01 | no assertion criteria provided | Ataxia - telangiectasia variant |
germline
|
Detail |
|
Pathogenic
|
2024-01-28 | criteria provided, multiple submitters, no conflicts | Ataxia-telangiectasia syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-10-07 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2024-02-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-03-29 | criteria provided, single submitter | Familial cancer of breast,Ataxia-telangiectasia syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-03-29 | criteria provided, single submitter | Familial cancer of breast,Ataxia-telangiectasia syndrome |
unknown
|
Detail |
|
Likely pathogenic
|
2023-01-27 | criteria provided, single submitter | Breast and/or ovarian cancer |
germline
|
Detail |
|
Pathogenic
|
2024-01-25 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.120 | Ataxia-Telangiectasia Variant | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000051.4(ATM):c.5763-1050A>G AND Ataxia - telangiectasia variant | ClinVar | Detail |
| NM_000051.4(ATM):c.5763-1050A>G AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
| NM_000051.4(ATM):c.5763-1050A>G AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000051.4(ATM):c.5763-1050A>G AND not provided | ClinVar | Detail |
| NM_000051.4(ATM):c.5763-1050A>G AND multiple conditions | ClinVar | Detail |
| NM_000051.4(ATM):c.5763-1050A>G AND multiple conditions | ClinVar | Detail |
| NM_000051.4(ATM):c.5763-1050A>G AND Breast and/or ovarian cancer | ClinVar | Detail |
| NM_000051.4(ATM):c.5763-1050A>G AND Familial cancer of breast | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs774925473 dbSNP
- Genome
- hg19
- Position
- chr11:108,179,837-108,179,837
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
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