chr10:87933147:C>T Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,692,904-89,692,904 View the variant detail on this assembly version.
hg38 chr10:87,933,147-87,933,147

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
Variant entry 3
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
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
COSMIC COSM5152 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic colorectal neoplasms, hereditary nonpolyposis somatic MGS000043
(TMGS000096) 		Kohei Miyazono Tokyo University
Pathogenic cowden disease germline MGS000082
(TMGS000165) 		Kenjiro Kosaki
Kenjiro Kosaki		 Keio University
Mutation View
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

DescrptionSourceLinks
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
hg38
Position
chr10:87,933,147-87,933,147
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
Genome browser