chr11:108315911:G>A Detail (hg38) (ATM, C11orf65)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr11:108,186,638-108,186,638 View the variant detail on this assembly version. |
| hg38 | chr11:108,315,911-108,315,911 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000051.3:c.6095G>A | NP_000042.3:p.Arg2032Lys |
| NM_001351834.1:c.6095G>A | NP_001338763.1:p.Arg2032Lys | |
| Ensemble | ENST00000278616.10:c.6095G>A | ENST00000278616.10:p.Arg2032Lys |
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001330368.1:c.641-6840C>T | |
| Ensemble | ENST00000525729.5:c.641-6840C>T |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
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
|
2023-07-18 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2023-12-25 | criteria provided, multiple submitters, no conflicts | Ataxia-telangiectasia syndrome |
germline
unknown
|
Detail |
|
Pathogenic
|
2023-12-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
Likely pathogenic
|
2024-01-29 | criteria provided, multiple submitters, no conflicts | Familial cancer of breast |
germline
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Ataxia-telangiectasia syndrome,Familial cancer of breast |
unknown
|
Detail |
|
Pathogenic
|
2018-10-31 | criteria provided, single submitter | Ataxia-telangiectasia syndrome,Familial cancer of breast |
unknown
|
Detail |
|
Pathogenic
|
2021-03-04 | no assertion criteria provided | Carcinoma of pancreas |
germline
|
Detail |
|
Likely pathogenic
|
no assertion criteria provided | breast carcinoma |
germline
|
Detail | |
|
Likely pathogenic
|
2020-10-05 | criteria provided, single submitter | adenocarcinoma |
unknown
|
Detail |
|
Pathogenic
|
2021-07-01 | no assertion criteria provided | Gastric cancer |
germline
|
Detail |
|
Pathogenic
|
2023-12-15 | 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.6095G>A (p.Arg2032Lys) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) AND Ataxia-telangiectasia syndrome | ClinVar | Detail |
| NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) AND not provided | ClinVar | Detail |
| NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) AND Familial cancer of breast | ClinVar | Detail |
| NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) AND multiple conditions | ClinVar | Detail |
| NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) AND multiple conditions | ClinVar | Detail |
| NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) AND Carcinoma of pancreas | ClinVar | Detail |
| NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) AND Breast carcinoma | ClinVar | Detail |
| NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) AND Adenocarcinoma | ClinVar | Detail |
| NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) AND Gastric cancer | ClinVar | Detail |
| NM_000051.4(ATM):c.6095G>A (p.Arg2032Lys) 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
- rs139770721 dbSNP
- Genome
- hg38
- Position
- chr11:108,315,911-108,315,911
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
- East Asian Chromosome Counts (ExAC)
- 8612
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121252
- Allele Counts in All Race (ExAC)
- 5
- Heterozygous Counts in All Race (ExAC)
- 5
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 4.123643321347277E-5
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