chr12:112888210:G>C Detail (hg19) (PTPN11)

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Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
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Information

Genome

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

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.226G>C	NP_002825.3:p.Glu76Gln
	NM_080601.1:c.226G>C	NP_542168.1:p.Glu76Gln
	NM_001330437.1:c.226G>C	NP_001317366.1:p.Glu76Gln
Ensemble	ENST00000351677.7:c.226G>C	ENST00000351677.7:p.Glu76Gln
	ENST00000392597.5:c.226G>C	ENST00000392597.5:p.Glu76Gln
	ENST00000635625.1:c.226G>C	ENST00000635625.1:p.Glu76Gln
	ENST00000639857.2:c.226G>C	ENST00000639857.2:p.Glu76Gln
	ENST00000690210.1:c.226G>C	ENST00000690210.1:p.Glu76Gln
	ENST00000687906.1:c.226G>C	ENST00000687906.1:p.Glu76Gln
	ENST00000688597.1:c.226G>C	ENST00000688597.1:p.Glu76Gln

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic Likely pathogenic
Review star
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Links

PTPN11

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	COSM13016	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		bronchus or lung, unspecified	not provided	MGS000042 (TMGS000093)	Hitoshi Nakagama	National Cancer Center Japan

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2014-08-04	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2017-05-15	criteria provided, single submitter	Noonan syndrome and Noonan-related syndrome	germline	Detail
Pathogenic	2022-07-25	criteria provided, single submitter	RASopathy	germline	Detail
Pathogenic Likely pathogenic	2024-03-26	criteria provided, multiple submitters, no conflicts	Noonan syndrome 1	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

Descrption	Source	Links
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) AND Noonan syndrome and Noonan-related syndrome	ClinVar	Detail
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.226G>C (p.Glu76Gln) AND Noonan syndrome 1	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: hg19
Position: chr12:112,888,210-112,888,210
Variant Type: snv
Reference Allele: G
Alternative Allele: C

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