chr10:89711873:A>G Detail (hg19) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,711,873-89,711,873 |
| hg38 | chr10:87,952,116-87,952,116 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001304718.1:c.493-2A>G | |
| NM_000314.6:c.493-2A>G | ||
| NM_001304717.2:c.493-2A>G |
Summary
MGeND
| Clinical significance |
Pathogenic
|
| Variant entry | 2 |
| GWAS entry | |
| Disease area statistics | Show details |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2018/01/13 | breast, unspecified |
germline
|
MGS000028
(TMGS000049) |
Yukihide Momozawa | RIKEN |
30287823
|
||
|
Pathogenic
|
2021/03/19 | breast |
germline
|
MGS000048
(TMGS000112) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2021-04-05 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2022-07-08 | criteria provided, multiple submitters, no conflicts | not provided |
germline
somatic
|
Detail |
Likely pathogenic
|
2023-09-28 | criteria provided, single submitter | Cowden syndrome 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2017-10-18 | reviewed by expert panel | PTEN hamartoma tumor syndrome |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000314.8(PTEN):c.493-2A>G AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.493-2A>G AND not provided | ClinVar | Detail |
| NM_000314.8(PTEN):c.493-2A>G AND Cowden syndrome 1 | ClinVar | Detail |
| NM_000314.8(PTEN):c.493-2A>G AND PTEN hamartoma tumor syndrome | ClinVar | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs587781784 dbSNP
- Genome
- hg19
- Position
- chr10:89,711,873-89,711,873
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- G
Genome browser