chr10:87864541:C>T Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,624,298-89,624,298 View the variant detail on this assembly version.
hg38 chr10:87,864,541-87,864,541

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.72C>T NP_000305.3:p.Asp24=
NM_001304717.2:c.72C>T NP_001291646.2:p.Asp24=
NM_001304718.1:c.72C>T NP_001291647.1:p.Asp24=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
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
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2023-11-23 criteria provided, multiple submitters, no conflicts PTEN hamartoma tumor syndrome germline Detail
Likely benign 2021-05-18 criteria provided, single submitter not provided unknown Detail
Likely benign 2020-07-07 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000314.8(PTEN):c.72C>T (p.Asp24=) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.72C>T (p.Asp24=) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.72C>T (p.Asp24=) AND Hereditary cancer-predisposing syndrome 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
rs1320222638 dbSNP
Genome
hg38
Position
chr10:87,864,541-87,864,541
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser