chr10:87933148:G>A Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,692,905-89,692,905 View the variant detail on this assembly version.
hg38 chr10:87,933,148-87,933,148

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.389G>A NP_000305.3:p.Arg130Gln
NM_001304717.2:c.389G>A NP_001291646.2:p.Arg130Gln
NM_001304718.1:c.389G>A NP_001291647.1:p.Arg130Gln
Summary

MGeND

Clinical significance Pathogenic
Variant entry 5
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
COSMIC COSM5033 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2017/11/09 Endometrioid adenocarcinoma somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/04/12 uterine body cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/03/22 Ovarian cancer somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic 2018/03/22 ovarian cancer (metastasis) somatic MGS000017
(TMGS000052) 		Kohei Miyazono Tokyo University
Pathogenic cowden disease germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-09-27 criteria provided, multiple submitters, no conflicts Cowden syndrome 1 germline unknown Detail
Pathogenic 2021-12-28 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2017-10-18 reviewed by expert panel PTEN hamartoma tumor syndrome de novo germline Detail
Pathogenic Likely pathogenic 2023-07-01 criteria provided, multiple submitters, no conflicts not provided de novo germline Detail
Likely pathogenic 2015-07-14 no assertion criteria provided Neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided prostate adenocarcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant melanoma of skin somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided gastric adenocarcinoma somatic Detail
Pathogenic Likely pathogenic 2018-12-01 no assertion criteria provided Neoplasm of ovary somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Breast neoplasm somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of uterine cervix somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided uterine carcinosarcoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Malignant neoplasm of body of uterus somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided glioblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Papillary renal cell carcinoma type 1 somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Small cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell carcinoma of the head and neck somatic Detail
Pathogenic 2022-04-29 criteria provided, single submitter Cowden syndrome de novo germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.126 PTEN hamartoma tumor syndrome NA CLINVAR Detail
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Cowden syndrome 1 ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Neoplasm ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Neoplasm of the large intestine ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Prostate adenocarcinoma ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Malignant melanoma of skin ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Gastric adenocarcinoma ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Neoplasm of ovary ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Breast neoplasm ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Neoplasm of uterine cervix ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Uterine carcinosarcoma ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Malignant neoplasm of body of uterus ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Glioblastoma ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Squamous cell lung carcinoma ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Papillary renal cell carcinoma type 1 ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Small cell lung carcinoma ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Squamous cell carcinoma of the head and neck ClinVar Detail
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) AND Cowden syndrome ClinVar 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
rs121909229 dbSNP
Genome
hg38
Position
chr10:87,933,148-87,933,148
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser