chr10:87957934:T>G Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,717,691-89,717,691 View the variant detail on this assembly version.
hg38 chr10:87,957,934-87,957,934

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.716T>G NP_000305.3:p.Met239Arg
NM_001304717.2:c.716T>G NP_001291646.2:p.Met239Arg
NM_001304718.1:c.716T>G NP_001291647.1:p.Met239Arg
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 COSM3397289 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Uncertain significance 2021-08-31 criteria provided, single submitter PTEN hamartoma tumor syndrome germline Detail
Uncertain significance 2018-01-17 criteria provided, single submitter Inborn genetic diseases germline 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.716T>G (p.Met239Arg) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.716T>G (p.Met239Arg) AND Inborn genetic diseases 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
rs786204871 dbSNP
Genome
hg38
Position
chr10:87,957,934-87,957,934
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser