chr12:112450416:A>G Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,220-112,888,220 View the variant detail on this assembly version.
hg38 chr12:112,450,416-112,450,416

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.236A>G NP_002825.3:p.Gln79Arg
NM_080601.1:c.236A>G NP_542168.1:p.Gln79Arg
NM_001330437.1:c.236A>G NP_001317366.1:p.Gln79Arg
Summary

MGeND

Clinical significance Likely pathogenic Pathogenic
Variant entry 5
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 176876 OMIM
HGNC 9644 HGNC
Ensembl ENSG00000179295 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM5879378 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic noonan syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic noonan syndrome germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
Pathogenic noonan syndrome germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic noonan syndrome germline MGS000073
(TMGS000167) 		Kenjiro Kosaki
 Keio University
IRUD
Likely pathogenic noonan syndrome germline MGS000088
(TMGS000177) 		Tatsuo Matsunaga National Hospital Organization Tokyo Medical Center 39755840
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2022-06-22 criteria provided, multiple submitters, no conflicts Noonan syndrome 1 de novo germline unknown Detail
Pathogenic 2024-01-25 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2015-07-16 criteria provided, single submitter Noonan syndrome germline Detail
Pathogenic 2022-08-17 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis unknown Detail
Pathogenic 2016-08-15 criteria provided, single submitter Noonan syndrome 3 germline Detail
Pathogenic 2021-05-27 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2023-07-03 criteria provided, single submitter germline Detail
Pathogenic 2024-02-13 criteria provided, multiple submitters, no conflicts PTPN11-related disorder 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
<0.001 Ventricular Septal Defects Q79R SHP2 embryonic hearts showed altered cardiomyocyte cell cycling, ventricula... BeFree 17641779 Detail
0.694 Noonan syndrome To understand the developmental stage- and cell type-specific consequences of th... BeFree 17641779 Detail
<0.001 Coinfection Coinfection with Q79R-Shp2 and dominant negative MEK-1 prevented enhanced endoca... BeFree 16166557 Detail
0.694 Noonan syndrome Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia... BeFree 16166557 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND Noonan syndrome 3 ClinVar Detail
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND Cardiovascular phenotype ClinVar Detail
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg) AND PTPN11-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Q79R SHP2 embryonic hearts showed altered cardiomyocyte cell cycling, ventricular noncompaction, and... DisGeNET Detail
To understand the developmental stage- and cell type-specific consequences of the NS SHP2 gain-of-fu... DisGeNET Detail
Coinfection with Q79R-Shp2 and dominant negative MEK-1 prevented enhanced endocardial cushion outgro... DisGeNET Detail
Noonan syndrome mutation Q79R in Shp2 increases proliferation of valve primordia mesenchymal cells v... 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
rs121918466 dbSNP
Genome
hg38
Position
chr12:112,450,416-112,450,416
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser