chr10:87957858:C>T Detail (hg38) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,717,615-89,717,615 View the variant detail on this assembly version.
hg38 chr10:87,957,858-87,957,858

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.640C>T NP_000305.3:p.Gln214Ter
NM_001304717.2:c.640C>T NP_001291646.2:p.Gln214Ter
NM_001304718.1:c.640C>T NP_001291647.1:p.Gln214Ter
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
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 COSM5150 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic Megalencephaly unknown MGS000001
(TMGS000137)
Kenjiro Kosaki Keio University
Pathogenic Megalencephaly germline MGS000001
(TMGS000137)
Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-09-29 criteria provided, single submitter Cowden syndrome 1 germline unknown Detail
Pathogenic 2015-11-01 no assertion criteria provided macrocephaly-autism syndrome tested-inconclusive Detail
Pathogenic 2017-10-31 criteria provided, single submitter not provided germline Detail
Pathogenic 2019-01-30 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2023-07-18 criteria provided, single submitter PTEN hamartoma tumor syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.454 Bannayan-Riley-Ruvalcaba syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) AND Cowden syndrome 1 ClinVar Detail
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) AND Macrocephaly-autism syndrome ClinVar Detail
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) AND not provided ClinVar Detail
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_000314.8(PTEN):c.640C>T (p.Gln214Ter) AND PTEN hamartoma tumor syndrome 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
rs121909227 dbSNP
Genome
hg38
Position
chr10:87,957,858-87,957,858
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser