chr12:112453279:G>T Detail (hg38) (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	chr12:112,891,083-112,891,083 View the variant detail on this assembly version.
hg38	chr12:112,453,279-112,453,279

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.417G>T	NP_002825.3:p.Glu139Asp
	NM_080601.1:c.417G>T	NP_542168.1:p.Glu139Asp
	NM_001330437.1:c.417G>T	NP_001317366.1:p.Glu139Asp
Ensemble	ENST00000351677.7:c.417G>T	ENST00000351677.7:p.Glu139Asp
	ENST00000392597.5:c.417G>T	ENST00000392597.5:p.Glu139Asp
	ENST00000635625.1:c.417G>T	ENST00000635625.1:p.Glu139Asp
	ENST00000639857.2:c.417G>T	ENST00000639857.2:p.Glu139Asp
	ENST00000687906.1:c.417G>T	ENST00000687906.1:p.Glu139Asp
	ENST00000688597.1:c.417G>T	ENST00000688597.1:p.Glu139Asp
	ENST00000690210.1:c.417G>T	ENST00000690210.1:p.Glu139Asp

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Pathogenic
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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	COSM5428489	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2021-07-22	criteria provided, single submitter	RASopathy	germline	Detail
Pathogenic	2016-09-20	criteria provided, single submitter	not provided	germline	Detail
Pathogenic	2015-01-16	criteria provided, single submitter	juvenile myelomonocytic leukemia,Noonan syndrome	germline	Detail
Pathogenic	2015-01-16	criteria provided, single submitter	juvenile myelomonocytic leukemia,Noonan syndrome	germline	Detail
Pathogenic	2018-06-13	criteria provided, multiple submitters, no conflicts	Noonan syndrome 1	de novo unknown	Detail
Pathogenic	2017-12-21	criteria provided, single submitter	Inborn genetic diseases	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
0.582	juvenile myelomonocytic leukemia	NA	CLINVAR		Detail
0.480	LEOPARD Syndrome	Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I28...	BeFree	18372317	Detail
0.582	juvenile myelomonocytic leukemia	Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia ...	BeFree	22315187	Detail
0.002	Acute lymphocytic leukemia	Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia ...	BeFree	22315187	Detail
0.694	Noonan syndrome	Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia ...	BeFree	22315187	Detail
0.009	Precursor Cell Lymphoblastic Leukemia Lymphoma	Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia ...	BeFree	22315187	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia...	ClinVar	Detail
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia...	ClinVar	Detail
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) AND Noonan syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.417G>T (p.Glu139Asp) AND Inborn genetic diseases	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
NA	DisGeNET	Detail
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 am...	DisGeNET	Detail
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with No...	DisGeNET	Detail
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with No...	DisGeNET	Detail
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with No...	DisGeNET	Detail
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with No...	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: rs397507520 dbSNP
Genome: hg38
Position: chr12:112,453,279-112,453,279
Variant Type: snv
Reference Allele: G
Alternative Allele: T

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