chr10:89720771:C>T Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,720,771-89,720,771
hg38 chr10:87,961,014-87,961,014 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.922C>T NP_000305.3:p.Arg308Cys
NM_001304717.2:c.922C>T NP_001291646.2:p.Arg308Cys
NM_001304718.1:c.922C>T NP_001291647.1:p.Arg308Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 COSM6228 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2023-02-02 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Uncertain significance 2023-12-01 criteria provided, multiple submitters, no conflicts PTEN hamartoma tumor syndrome germline Detail
Uncertain significance 2023-03-22 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Uncertain significance 2023-08-15 criteria provided, single submitter not specified germline Detail
Uncertain significance 2021-12-22 criteria provided, single submitter Cowden syndrome 1,familial meningioma,macrocephaly-autism syndrome,Glioma susceptibility 2,Malignant tumor of prostate unknown Detail
Uncertain significance 2021-12-22 criteria provided, single submitter Cowden syndrome 1,familial meningioma,macrocephaly-autism syndrome,Glioma susceptibility 2,Malignant tumor of prostate unknown Detail
Uncertain significance 2021-12-22 criteria provided, single submitter Cowden syndrome 1,familial meningioma,macrocephaly-autism syndrome,Glioma susceptibility 2,Malignant tumor of prostate unknown Detail
Uncertain significance 2021-12-22 criteria provided, single submitter Cowden syndrome 1,familial meningioma,macrocephaly-autism syndrome,Glioma susceptibility 2,Malignant tumor of prostate unknown Detail
Uncertain significance 2021-12-22 criteria provided, single submitter Cowden syndrome 1,familial meningioma,macrocephaly-autism syndrome,Glioma susceptibility 2,Malignant tumor of prostate unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) AND not specified ClinVar Detail
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.922C>T (p.Arg308Cys) AND multiple conditions ClinVar 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
rs1064794436 dbSNP
Genome
hg19
Position
chr10:89,720,771-89,720,771
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser