chr12:112888211:A>G 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	chr12:112,888,211-112,888,211
hg38	chr12:112,450,407-112,450,407 View the variant detail on this assembly version.

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.227A>G	NP_002825.3:p.Glu76Gly
	NM_080601.1:c.227A>G	NP_542168.1:p.Glu76Gly
	NM_001330437.1:c.227A>G	NP_001317366.1:p.Glu76Gly
Ensemble	ENST00000688597.1:c.227A>G	ENST00000688597.1:p.Glu76Gly
	ENST00000690210.1:c.227A>G	ENST00000690210.1:p.Glu76Gly
	ENST00000351677.7:c.227A>G	ENST00000351677.7:p.Glu76Gly
	ENST00000392597.5:c.227A>G	ENST00000392597.5:p.Glu76Gly
	ENST00000635625.1:c.227A>G	ENST00000635625.1:p.Glu76Gly
	ENST00000639857.2:c.227A>G	ENST00000639857.2:p.Glu76Gly
	ENST00000687906.1:c.227A>G	ENST00000687906.1:p.Glu76Gly

Summary

MGeND

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

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM13017	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
not provided		Acute myeloblastic leukaemia	somatic	MGS000005 (TMGS000006)	Keizo Horibe	National Hospital Organization Nagoya Medical Center

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2015-10-18	criteria provided, single submitter	juvenile myelomonocytic leukemia	somatic	Detail
Pathogenic	2018-01-22	criteria provided, single submitter	not provided	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of the large intestine	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	neuroblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	multiple myeloma	somatic	Detail
Conflicting interpretations of pathogenicity	2023-12-14	criteria provided, conflicting interpretations	RASopathy	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Turner Syndrome, Male	NA	CLINVAR		Detail
0.582	juvenile myelomonocytic leukemia	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) AND Juvenile myelomonocytic leukemia	ClinVar	Detail
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) AND Neoplasm of the large intestine	ClinVar	Detail
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) AND Astrocytoma	ClinVar	Detail
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) AND Squamous cell lung carcinoma	ClinVar	Detail
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) AND Neuroblastoma	ClinVar	Detail
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) AND Multiple myeloma	ClinVar	Detail
NM_002834.5(PTPN11):c.227A>G (p.Glu76Gly) AND RASopathy	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: rs121918465 dbSNP
Genome: hg19
Position: chr12:112,888,211-112,888,211
Variant Type: snv
Reference Allele: A
Alternative Allele: G

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