chr10:89685314:T>C Detail (hg19) (PTEN)

Information

Genome

Assembly Position
hg19 chr10:89,685,314-89,685,314
hg38 chr10:87,925,557-87,925,557 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000314.6:c.209T>C NP_000305.3:p.Leu70Pro
NM_001304717.2:c.209T>C NP_001291646.2:p.Leu70Pro
NM_001304718.1:c.209T>C NP_001291647.1:p.Leu70Pro
Summary

MGeND

Clinical significance not provided
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely 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 COSM5108 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided caecum not provided MGS000040
(TMGS000095) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1998-11-01 no assertion criteria provided Cowden syndrome 1 germline Detail
Likely pathogenic 2021-06-04 reviewed by expert panel PTEN hamartoma tumor syndrome germline Detail
Likely pathogenic 2021-08-03 criteria provided, single submitter macrocephaly-autism syndrome,Malignant tumor of prostate,familial meningioma,Glioma susceptibility 2,Cowden syndrome 1 unknown Detail
Likely pathogenic 2021-08-03 criteria provided, single submitter macrocephaly-autism syndrome,Malignant tumor of prostate,familial meningioma,Glioma susceptibility 2,Cowden syndrome 1 unknown Detail
Likely pathogenic 2021-08-03 criteria provided, single submitter macrocephaly-autism syndrome,Malignant tumor of prostate,familial meningioma,Glioma susceptibility 2,Cowden syndrome 1 unknown Detail
Likely pathogenic 2021-08-03 criteria provided, single submitter macrocephaly-autism syndrome,Malignant tumor of prostate,familial meningioma,Glioma susceptibility 2,Cowden syndrome 1 unknown Detail
Likely pathogenic 2021-08-03 criteria provided, single submitter macrocephaly-autism syndrome,Malignant tumor of prostate,familial meningioma,Glioma susceptibility 2,Cowden syndrome 1 unknown Detail
Pathogenic 2023-11-20 criteria provided, single submitter Hereditary cancer-predisposing syndrome 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.209T>C (p.Leu70Pro) AND Cowden syndrome 1 ClinVar Detail
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) AND PTEN hamartoma tumor syndrome ClinVar Detail
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) AND multiple conditions ClinVar Detail
NM_000314.8(PTEN):c.209T>C (p.Leu70Pro) AND Hereditary cancer-predisposing 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
rs121909226 dbSNP
Genome
hg19
Position
chr10:89,685,314-89,685,314
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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