chr10:89720852:C>T Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,720,852-89,720,852
hg38 chr10:87,961,095-87,961,095 View the variant detail on this assembly version.

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 Uncertain significance not provided
Variant entry 14
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 601728 OMIM
HGNC 9588 HGNC
Ensembl ENSG00000171862 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv40102774 TogoVar
COSMIC COSM5151 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 malignant neoplasm of rectum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/05/13 ill-defined sites within the digestive system germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/05/13 peripheral nerves and autonomic nervous system germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/05/13 cowden syndrome germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/05/13 nontoxic goitre, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/05/13 breast, unspecified germline MGS000029
(TMGS000133) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 bronchus or lung, unspecified not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2018/01/13 breast, unspecified germline MGS000028
(TMGS000049) 		Yukihide Momozawa RIKEN 30287823
Uncertain significance Liver somatic MGS000038
(TMGS000091) 		Manabu Muto
Ichiro Kinoshita		 Kyoto University
Department of Medical Oncology Faculty of Medicine and Graduate School of Medicine Hokkaido University
not provided Endometrial 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 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

DescrptionSourceLinks
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
hg19
Position
chr10:89,720,852-89,720,852
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser