chr10:89692905:G>A Detail (hg19) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,692,905-89,692,905 |
| hg38 | chr10:87,933,148-87,933,148 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000314.6:c.389G>A | NP_000305.3:p.Arg130Gln |
| NM_001304717.2:c.389G>A | NP_001291646.2:p.Arg130Gln | |
| NM_001304718.1:c.389G>A | NP_001291647.1:p.Arg130Gln |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 12 |
| 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
|
2020/04/20 | lower third of oesophagus |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | transverse colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | sigmoid colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
not provided
|
2018/05/15 | stomach neoplasms |
somatic
|
MGS000017
(TMGS000034) |
Kohei Miyazono | Tokyo University | |||
|
not provided
|
Ovarian cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
Pathogenic
|
cowden disease |
germline
|
MGS000001
(TMGS000137) |
Kenjiro Kosaki | Keio University | ||||
|
Pathogenic
|
2020/04/20 | caecum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | descending colon |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-09-27 | criteria provided, multiple submitters, no conflicts | Cowden syndrome 1 |
germline
unknown
|
Detail |
|
Pathogenic
|
2021-12-28 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2017-10-18 | reviewed by expert panel | PTEN hamartoma tumor syndrome |
de novo
germline
|
Detail |
Pathogenic
Likely pathogenic
|
2023-07-01 | criteria provided, multiple submitters, no conflicts | not provided |
de novo
germline
|
Detail |
|
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of the large intestine |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | prostate adenocarcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant melanoma of skin |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | gastric adenocarcinoma |
somatic
|
Detail |
|
Pathogenic
Likely pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Breast neoplasm |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Neoplasm of uterine cervix |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | uterine carcinosarcoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Malignant neoplasm of body of uterus |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | glioblastoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Papillary renal cell carcinoma type 1 |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Small cell lung carcinoma |
somatic
|
Detail |
|
Likely pathogenic
|
2016-05-31 | no assertion criteria provided | Squamous cell carcinoma of the head and neck |
somatic
|
Detail |
|
Pathogenic
|
2022-04-29 | criteria provided, single submitter | Cowden syndrome |
de novo
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.126 | PTEN hamartoma tumor syndrome | NA | CLINVAR | Detail | |
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Cowden syndrome 1 | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND PTEN hamartoma tumor syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND not provided | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Neoplasm | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Neoplasm of the large intestine | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Prostate adenocarcinoma | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Malignant melanoma of skin | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Gastric adenocarcinoma | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Neoplasm of ovary | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Breast neoplasm | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Neoplasm of uterine cervix | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Uterine carcinosarcoma | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Malignant neoplasm of body of uterus | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Glioblastoma | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Squamous cell lung carcinoma | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Papillary renal cell carcinoma type 1 | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Small cell lung carcinoma | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Squamous cell carcinoma of the head and neck | ClinVar | Detail |
| NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Cowden syndrome | 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
- rs121909229 dbSNP
- Genome
- hg19
- Position
- chr10:89,692,905-89,692,905
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser