chr10:89692904:C>T Detail (hg19) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,692,904-89,692,904 |
| hg38 | chr10:87,933,147-87,933,147 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000314.6:c.388C>T | NP_000305.3:p.Arg130Ter |
| NM_001304717.2:c.388C>T | NP_001291646.2:p.Arg130Ter | |
| NM_001304718.1:c.388C>T | NP_001291647.1:p.Arg130Ter |
Summary
MGeND
| Clinical significance |
Pathogenic
not provided
|
| Variant entry | 13 |
| 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
|
| Review star |  |
| Show details | |
Disease area statistics
MGeND
| Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
|---|---|---|---|---|---|---|---|---|---|
|
Pathogenic
|
2020/04/20 | sigmoid colon |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | anal canal |
not provided
|
MGS000042
(TMGS000093) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2018/01/13 | breast, unspecified |
germline
|
MGS000028
(TMGS000049) |
Yukihide Momozawa | RIKEN |
30287823
|
||
|
Pathogenic
|
Endometrial |
somatic
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
Pathogenic
|
breast |
germline
|
MGS000038
(TMGS000091) |
Manabu Muto Ichiro Kinoshita |
Kyoto University Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University |
||||
|
not provided
|
colorectal cancer |
somatic
|
MGS000018
(TMGS000110) |
Hitoshi Nakagama | National Cancer Center Japan |
30742731
|
|||
|
Pathogenic
|
2021/03/19 | breast |
germline
|
MGS000048
(TMGS000112) |
Yukihide Momozawa Koichi Matsuda |
RIKEN The University of Tokyo |
|||
|
Pathogenic
|
cowden disease |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
||||
|
Pathogenic
|
2020/04/20 | fundus of stomach |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | jejunum |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | malignant neoplasm of rectosigmoid junction |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan | |||
|
Pathogenic
|
2020/04/20 | bronchus or lung, unspecified |
not provided
|
MGS000041
(TMGS000094) |
Hitoshi Nakagama | National Cancer Center Japan |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2023-06-22 | criteria provided, multiple submitters, no conflicts | Cowden syndrome 1 |
de novo
germline
unknown
|
Detail |
|
Pathogenic
|
2023-01-25 | criteria provided, single submitter | macrocephaly-autism syndrome |
germline
de novo
|
Detail |
|
Pathogenic
|
2021-11-01 | criteria provided, multiple submitters, no conflicts | not provided |
unknown
germline
|
Detail |
|
Pathogenic
|
2021-07-08 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
germline
|
Detail |
|
Pathogenic
|
2024-01-07 | criteria provided, multiple submitters, no conflicts | PTEN hamartoma tumor syndrome |
de novo
paternal
somatic
germline
|
Detail |
|
Pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Pathogenic
|
2020-09-01 | no assertion criteria provided | rhabdomyosarcoma |
germline
|
Detail |
|
Pathogenic
|
no assertion criteria provided |
somatic
|
Detail | ||
|
Pathogenic
|
2021-12-09 | criteria provided, multiple submitters, no conflicts | Glioma susceptibility 2 |
germline
unknown
|
Detail |
|
Pathogenic
|
2022-03-15 | criteria provided, single submitter | Cowden syndrome 1,macrocephaly-autism syndrome,familial meningioma,Malignant tumor of prostate,Glioma susceptibility 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-15 | criteria provided, single submitter | Cowden syndrome 1,macrocephaly-autism syndrome,familial meningioma,Malignant tumor of prostate,Glioma susceptibility 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-15 | criteria provided, single submitter | Cowden syndrome 1,macrocephaly-autism syndrome,familial meningioma,Malignant tumor of prostate,Glioma susceptibility 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-15 | criteria provided, single submitter | Cowden syndrome 1,macrocephaly-autism syndrome,familial meningioma,Malignant tumor of prostate,Glioma susceptibility 2 |
unknown
|
Detail |
|
Pathogenic
|
2022-03-15 | criteria provided, single submitter | Cowden syndrome 1,macrocephaly-autism syndrome,familial meningioma,Malignant tumor of prostate,Glioma susceptibility 2 |
unknown
|
Detail |
|
Pathogenic
|
2021-07-01 | no assertion criteria provided | Gastric cancer |
germline
|
Detail |
|
Pathogenic
|
2023-08-11 | criteria provided, single submitter | Cowden syndrome 1,macrocephaly-autism syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-08-11 | criteria provided, single submitter | Cowden syndrome 1,macrocephaly-autism syndrome |
germline
|
Detail |
|
Pathogenic
|
2023-12-08 | criteria provided, single submitter | PTEN-related disorder |
germline
|
Detail |
CIViC
| Disease | Drug | EL | ET | ED | CS | VO | TR | Pubmed | Links |
|---|---|---|---|---|---|---|---|---|---|
| thyroid cancer | Perifosine,Temsirolimus | D |
Predictive
|
Supports
|
Sensitivity/Response |
N/A
|
2 | 19706758 | Detail |
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.001 | Adenocarcinoma of lung (disorder) | Therefore, we created a tetracycline inducible expression system of wild-type PT... | BeFree | 21333374 | Detail |
| 0.454 | Bannayan-Riley-Ruvalcaba syndrome | NA | CLINVAR | Detail | |
| 0.126 | PTEN hamartoma tumor syndrome | NA | CLINVAR | Detail | |
| 0.122 | Neoplastic Syndromes, Hereditary | NA | CLINVAR | Detail | |
| 0.182 | Glioma | In contrast, ectopic expression of wild type PTEN, but not the PTEN(G129R) mutan... | BeFree | 10435616 | Detail |
| 0.560 | MACROCEPHALY/AUTISM SYNDROME | NA | CLINVAR | Detail | |
| 0.007 | Glioma | In contrast, ectopic expression of wild type PTEN, but not the PTEN(G129R) mutan... | BeFree | 10435616 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| Preclinical study in thyroid cancer cell lines. 6 cell lines with alterations of the PI3K/Akt pathwa... | CIViC Evidence | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND Cowden syndrome 1 | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND Macrocephaly-autism syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND not provided | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND PTEN hamartoma tumor syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND Neoplasm of ovary | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND Neoplasm of brain | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND Rhabdomyosarcoma | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND Abnormal cardiovascular system morphology | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND Glioma susceptibility 2 | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND Gastric cancer | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.388C>T (p.Arg130Ter) AND PTEN-related disorder | ClinVar | Detail |
| Therefore, we created a tetracycline inducible expression system of wild-type PTEN (PTEN-WT) as well... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In contrast, ectopic expression of wild type PTEN, but not the PTEN(G129R) mutant, in PTEN-mutant gl... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In contrast, ectopic expression of wild type PTEN, but not the PTEN(G129R) mutant, in PTEN-mutant gl... | 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
- rs121909224 dbSNP
- Genome
- hg19
- Position
- chr10:89,692,904-89,692,904
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8650
- 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)
- 121406
- Allele Counts in All Race (ExAC)
- 1
- Heterozygous Counts in All Race (ExAC)
- 1
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 8.236825198095647E-6
- Variant (CIViC) (CIViC Variant)
- R130*
- Transcript 1 (CIViC Variant)
- ENST00000371953.3
- Variant URL (CIViC Variant)
- https://civic.genome.wustl.edu/links/variants/636
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