chr10:89725078:C>T Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,725,078-89,725,078
hg38 chr10:87,965,321-87,965,321 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.1061C>T NP_000305.3:p.Pro354Leu
NM_001304717.2:c.1061C>T NP_001291646.2:p.Pro354Leu
Ensemble ENST00000371953.8:c.1061C>T ENST00000371953.8:p.Pro354Leu
Summary

MGeND

Clinical significance Uncertain significance
Variant entry 4
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 Uncertain significance
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 COSM5031897 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Uncertain significance 2021/03/19 Colorectal germline MGS000050
(TMGS000114) 		Yukihide Momozawa
Koichi Matsuda		 RIKEN
The University of Tokyo
Uncertain significance malignant neoplasm of colon germline MGS000091
(TMGS000180) 		Yukihide Momozawa RIKEN 39663357
Uncertain significance malignant neoplasm of prostate germline MGS000091
(TMGS000180) 		Yukihide Momozawa RIKEN 39663357
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2024-01-31 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2020-10-12 criteria provided, multiple submitters, no conflicts not provided germline Detail
Uncertain significance 2023-10-11 reviewed by expert panel PTEN hamartoma tumor syndrome germline Detail
Uncertain significance 2023-04-05 criteria provided, multiple submitters, no conflicts Cowden syndrome 1 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.122 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.1061C>T (p.Pro354Leu) AND Cowden syndrome 1 ClinVar 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
rs375709098 dbSNP
Genome
hg19
Position
chr10:89,725,078-89,725,078
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Homozygous Counts in All Race (ExAC)
0
East Asian Chromosome Counts (ExAC)
6806
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)
87736
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Allele Frequency in All Race (ExAC)
1.1397829853195951E-5
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