chr12:112926851:C>T Detail (hg19) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,926,851-112,926,851
hg38 chr12:112,489,047-112,489,047 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.1471C>T NP_002825.3:p.Pro491Ser
NM_001330437.1:c.1483C>T NP_001317366.1:p.Pro495Ser
Ensemble ENST00000351677.7:c.1471C>T ENST00000351677.7:p.Pro491Ser
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 176876 OMIM
HGNC 9644 HGNC
Ensembl ENSG00000179295 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM13033 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic 2020/04/20 abdominal part of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 malignant neoplasm of rectum not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
Pathogenic 2020/04/20 ill-defined sites within the digestive system not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-09-23 criteria provided, multiple submitters, no conflicts RASopathy germline unknown Detail
Pathogenic 2020-09-02 criteria provided, multiple submitters, no conflicts Noonan syndrome germline Detail
Pathogenic 2022-07-11 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic criteria provided, single submitter Noonan syndrome 1 de novo germline Detail
Pathogenic 2021-01-14 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Turner Syndrome, Male NA CLINVAR Detail
0.694 Noonan syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NA DisGeNET 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
rs397507539 dbSNP
Genome
hg19
Position
chr12:112,926,851-112,926,851
Variant Type
snv
Reference Allele
C
Alternative Allele
T
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121408
Allele Counts in All Race (ExAC)
1
Heterozygous Counts in All Race (ExAC)
1
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.236689509752241E-6
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