chr10:87961095:C>T Detail (hg38) (PTEN)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr10:89,720,852-89,720,852 View the variant detail on this assembly version. |
| hg38 | chr10:87,961,095-87,961,095 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_000314.6:c.1003C>T | NP_000305.3:p.Arg335Ter |
| NM_001304717.2:c.1003C>T | NP_001291646.2:p.Arg335Ter | |
| NM_001304718.1:c.1003C>T | NP_001291647.1:p.Arg335Ter |
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
|
cowden disease |
germline
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
||||
|
Pathogenic
|
endometrial carcinomas |
somatic
|
MGS000082
(TMGS000165) |
Kenjiro Kosaki Kenjiro Kosaki |
Keio University Mutation View |
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Pathogenic
|
2007-07-01 | no assertion criteria provided | Proteus-like syndrome |
unknown
|
Detail |
|
Pathogenic
|
2024-04-04 | criteria provided, multiple submitters, no conflicts | Cowden syndrome 1 |
germline
inherited
unknown
|
Detail |
|
Pathogenic
|
2024-03-01 | criteria provided, multiple submitters, no conflicts | not provided |
germline
|
Detail |
|
Pathogenic
|
2022-11-08 | criteria provided, multiple submitters, no conflicts | Hereditary cancer-predisposing syndrome |
de novo
germline
|
Detail |
|
Pathogenic
|
2023-12-24 | criteria provided, multiple submitters, no conflicts | PTEN hamartoma tumor syndrome |
de novo
germline
|
Detail |
|
Pathogenic
|
2019-12-11 | criteria provided, single submitter | macrocephaly-autism syndrome |
de novo
|
Detail |
Likely pathogenic
|
2015-07-14 | no assertion criteria provided | Neoplasm of brain |
somatic
|
Detail |
|
Pathogenic
|
2018-03-05 | criteria provided, single submitter | PTEN-related disorder |
de novo
|
Detail |
|
Pathogenic
|
2017-09-01 | criteria provided, single submitter | Cowden syndrome 1,macrocephaly-autism syndrome |
germline
|
Detail |
|
Pathogenic
|
2017-09-01 | criteria provided, single submitter | Cowden syndrome 1,macrocephaly-autism syndrome |
germline
|
Detail |
|
Pathogenic
|
2018-12-01 | no assertion criteria provided | Neoplasm of ovary |
somatic
|
Detail |
|
Pathogenic
|
2020-01-10 | criteria provided, single submitter | Cowden syndrome |
germline
|
Detail |
|
Pathogenic
|
2021-07-10 | criteria provided, single submitter |
de novo
|
Detail | |
not provided
|
no assertion provided | Cowden syndrome,macrocephaly-autism syndrome |
unknown
|
Detail | |
|
not provided
|
no assertion provided | Cowden syndrome,macrocephaly-autism syndrome |
unknown
|
Detail | |
|
Pathogenic
|
2020-08-10 | criteria provided, single submitter | Familial cancer of breast |
germline
|
Detail |
|
Pathogenic
|
2022-02-14 | criteria provided, single submitter | Malignant tumor of prostate,familial meningioma,Cowden syndrome 1,Glioma susceptibility 2,macrocephaly-autism syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-02-14 | criteria provided, single submitter | Malignant tumor of prostate,familial meningioma,Cowden syndrome 1,Glioma susceptibility 2,macrocephaly-autism syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-02-14 | criteria provided, single submitter | Malignant tumor of prostate,familial meningioma,Cowden syndrome 1,Glioma susceptibility 2,macrocephaly-autism syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-02-14 | criteria provided, single submitter | Malignant tumor of prostate,familial meningioma,Cowden syndrome 1,Glioma susceptibility 2,macrocephaly-autism syndrome |
unknown
|
Detail |
|
Pathogenic
|
2022-02-14 | criteria provided, single submitter | Malignant tumor of prostate,familial meningioma,Cowden syndrome 1,Glioma susceptibility 2,macrocephaly-autism syndrome |
unknown
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 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 | |
| 0.243 | Lhermitte-Duclos disease | A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the ... | BeFree | 25756585 | Detail |
| 0.521 | Hamartoma Syndrome, Multiple | A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the ... | BeFree | 25756585 | Detail |
| 0.241 | Proteus-Like Syndrome (disorder) | NA | CLINVAR | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND Proteus-like syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND Cowden syndrome 1 | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND not provided | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND Hereditary cancer-predisposing syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND PTEN hamartoma tumor syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND Macrocephaly-autism syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND Neoplasm of brain | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND PTEN-related disorder | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND Neoplasm of ovary | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND Cowden syndrome | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND Abnormality of the nervous system | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND Familial cancer of breast | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND multiple conditions | ClinVar | Detail |
| NM_000314.8(PTEN):c.1003C>T (p.Arg335Ter) AND multiple conditions | ClinVar | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden synd... | DisGeNET | Detail |
| A PTEN mutation, c.1003C>T p.(Arg335Ter), was subsequently identified as the cause of Cowden synd... | 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
- rs121909231 dbSNP
- Genome
- hg38
- Position
- chr10:87,961,095-87,961,095
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser