chr10:87957915:C>T Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,717,672-89,717,672 View the variant detail on this assembly version.
hg38 chr10:87,957,915-87,957,915

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.697C>T NP_000305.3:p.Arg233Ter
NM_001304717.2:c.697C>T NP_001291646.2:p.Arg233Ter
NM_001304718.1:c.697C>T NP_001291647.1:p.Arg233Ter
Summary

MGeND

Clinical significance Pathogenic not provided
Variant entry 5
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM5154 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided 2017/12/14 Endometrioid adenocarcinoma somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic colorectal neoplasms, hereditary nonpolyposis somatic MGS000043
(TMGS000096) 		Kohei Miyazono Tokyo University
Pathogenic other germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic primary immunodeficiency desease germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2024-03-25 criteria provided, multiple submitters, no conflicts Cowden syndrome 1 unknown de novo germline Detail
Pathogenic 2024-01-23 criteria provided, multiple submitters, no conflicts PTEN hamartoma tumor syndrome unknown germline Detail
Pathogenic 2023-09-18 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-05-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2014-10-02 no assertion criteria provided Breast neoplasm somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Neoplasm of the large intestine somatic Detail
not provided 2016-03-10 no assertion provided glioblastoma somatic Detail
Pathogenic 2014-10-02 no assertion criteria provided Non-small cell lung carcinoma somatic Detail
Pathogenic 1997-08-01 no assertion criteria provided macrocephaly-autism syndrome germline Detail
Pathogenic 2023-01-03 criteria provided, single submitter Cowden syndrome germline Detail
Pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Pathogenic no assertion criteria provided somatic Detail
Pathogenic 2021-07-01 no assertion criteria provided Gastric cancer germline Detail
Pathogenic 2021-12-31 criteria provided, single submitter Glioma susceptibility 2 unknown Detail
Pathogenic 2023-10-22 criteria provided, single submitter PTEN-related disorder germline Detail
CIViC
Disease Drug EL ET ED CS VO TR Pubmed Links
breast cancer MTOR Inhibitor D Predictive Supports Sensitivity/Response Somatic 4 20085938 Detail
glioblastoma B Prognostic Does Not Support Poor Outcome Somatic 3 22479427 Detail
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
Annotation

Annotations

DescrptionSourceLinks
Cells with PTEN deficiency have been shown to exhibit slowed growth in reponse to PI3K-mTOR inhibito... CIViC Evidence Detail
PTEN nonsense mutations, including R233*, have been shown to be inactivating and loss-of-function, b... CIViC Evidence Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Cowden syndrome 1 ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Breast neoplasm ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Neoplasm of the large intestine ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Glioblastoma ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Non-small cell lung carcinoma ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Macrocephaly-autism syndrome ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Cowden syndrome ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Neoplasm of ovary ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Abnormal cardiovascular system morphology ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Gastric cancer ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND Glioma susceptibility 2 ClinVar Detail
NM_000314.8(PTEN):c.697C>T (p.Arg233Ter) AND PTEN-related disorder ClinVar Detail
NA DisGeNET 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
rs121909219 dbSNP
Genome
hg38
Position
chr10:87,957,915-87,957,915
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Variant (CIViC) (CIViC Variant)
R233*
Transcript 1 (CIViC Variant)
ENST00000371953.3
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/110
Summary (CIViC Variant)
PTEN R233* has been shown to be a loss of function mutation, and PTEN loss has been the subject of considerable research in breast cancer. PTEN loss may sensitize cells to PI3K-mTOR inhibition. While still being debated, there is data to support that PTEN loss is both associated with poorer prognosis, and no change in prognosis.
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