chr12:112450406:G>A Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,210-112,888,210 View the variant detail on this assembly version.
hg38 chr12:112,450,406-112,450,406

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.226G>A NP_002825.3:p.Glu76Lys
NM_080601.1:c.226G>A NP_542168.1:p.Glu76Lys
NM_001330437.1:c.226G>A NP_001317366.1:p.Glu76Lys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
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 COSM13000 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-06-21 criteria provided, single submitter juvenile myelomonocytic leukemia somatic Detail
Uncertain significance 2020-03-04 criteria provided, single submitter RASopathy germline unknown Detail
Pathogenic 2013-05-10 no assertion criteria provided Noonan syndrome somatic Detail
Pathogenic 2023-01-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided neuroblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided multiple myeloma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Astrocytoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Squamous cell lung carcinoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of the large intestine somatic Detail
Uncertain significance no assertion criteria provided Malignant neoplastic disease unknown Detail
Pathogenic criteria provided, single submitter PTPN11-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.694 Noonan syndrome Wild type SHP-2 and four disease-associated mutants recurring in hematologic mal... BeFree 17177198 Detail
0.002 Hematologic Neoplasms Wild type SHP-2 and four disease-associated mutants recurring in hematologic mal... BeFree 17177198 Detail
0.694 Noonan syndrome NA CLINVAR Detail
0.582 juvenile myelomonocytic leukemia NA CLINVAR Detail
0.582 juvenile myelomonocytic leukemia Ptpn11(E76K) mutation is the most common and most active Ptpn11 mutation found i... BeFree 21930766 Detail
0.012 Leukemia, Myelocytic, Acute Moreover, tissue-specific knock-in of Ptpn11(E76K/+) mutation in lineage-committ... BeFree 21930766 Detail
<0.001 adenocarcinoma Atypical adenomatous hyperplasia and small adenomas were observed in CCSP-rtTA/t... BeFree 24480804 Detail
<0.001 acute leukemia Thus, Ptpn11(E76K) mutation has non-lineage-specific effects on malignant transf... BeFree 21930766 Detail
<0.001 adenoma Atypical adenomatous hyperplasia and small adenomas were observed in CCSP-rtTA/t... BeFree 24480804 Detail
0.002 Myeloproliferative disease Our results showed that SHP-2 E76K mutation caused myeloproliferative disease in... BeFree 16371368 Detail
0.003 Solid tumour Here, we report that induction of the Ptpn11(E76K/+) mutation, the most common a... BeFree 23884424 Detail
0.137 leukemia Here, we report that induction of the Ptpn11(E76K/+) mutation, the most common a... BeFree 23884424 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND Juvenile myelomonocytic leukemia ClinVar Detail
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND Neuroblastoma ClinVar Detail
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND Multiple myeloma ClinVar Detail
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND Astrocytoma ClinVar Detail
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND Squamous cell lung carcinoma ClinVar Detail
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND Neoplasm of the large intestine ClinVar Detail
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND Malignant neoplastic disease ClinVar Detail
NM_002834.5(PTPN11):c.226G>A (p.Glu76Lys) AND PTPN11-related disorder ClinVar Detail
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys ... DisGeNET Detail
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Ptpn11(E76K) mutation is the most common and most active Ptpn11 mutation found in JMML and acute leu... DisGeNET Detail
Moreover, tissue-specific knock-in of Ptpn11(E76K/+) mutation in lineage-committed myeloid, T lympho... DisGeNET Detail
Atypical adenomatous hyperplasia and small adenomas were observed in CCSP-rtTA/tetO-SHP2(E76K) bitra... DisGeNET Detail
Thus, Ptpn11(E76K) mutation has non-lineage-specific effects on malignant transformation of hematopo... DisGeNET Detail
Atypical adenomatous hyperplasia and small adenomas were observed in CCSP-rtTA/tetO-SHP2(E76K) bitra... DisGeNET Detail
Our results showed that SHP-2 E76K mutation caused myeloproliferative disease in mice, while overexp... DisGeNET Detail
Here, we report that induction of the Ptpn11(E76K/+) mutation, the most common and active Ptpn11 mut... DisGeNET Detail
Here, we report that induction of the Ptpn11(E76K/+) mutation, the most common and active Ptpn11 mut... 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
rs121918464 dbSNP
Genome
hg38
Position
chr12:112,450,406-112,450,406
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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