chr12:112910785:G>A Detail (hg19) (PTPN11)

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

Information

Genome

Assembly	Position
hg19	chr12:112,910,785-112,910,785
hg38	chr12:112,472,981-112,472,981 View the variant detail on this assembly version.

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_080601.1:c.794G>A	NP_542168.1:p.Arg265Gln
	NM_001330437.1:c.794G>A	NP_001317366.1:p.Arg265Gln
	NM_002834.3:c.794G>A	NP_002825.3:p.Arg265Gln
Ensemble	ENST00000392597.5:c.794G>A	ENST00000392597.5:p.Arg265Gln
	ENST00000688597.1:c.794G>A	ENST00000688597.1:p.Arg265Gln
	ENST00000639857.2:c.794G>A	ENST00000639857.2:p.Arg265Gln
	ENST00000635625.1:c.794G>A	ENST00000635625.1:p.Arg265Gln
	ENST00000687906.1:c.680G>A	ENST00000687906.1:p.Arg227Gln
	ENST00000351677.7:c.794G>A	ENST00000351677.7:p.Arg265Gln
	ENST00000690210.1:c.794G>A	ENST00000690210.1:p.Arg265Gln

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

JP	HGVD:[No Data.]
	ToMMo:[No Data.]
	NCBN:[No Data.]
	NCBN(Hondo):[No Data.]
	NCBN(Ryukyu):[No Data.]
East asia	ExAC:<0.001

Prediction

ClinVar

Clinical Significance	Pathogenic
Review star
Show details

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	COSM1948751	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2017-04-03	reviewed by expert panel	Noonan syndrome	germline	Detail
Pathogenic	2023-07-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic Likely pathogenic	2024-03-29	criteria provided, multiple submitters, no conflicts	Noonan syndrome 1	de novo germline paternal unknown	Detail
Pathogenic	2024-01-29	criteria provided, multiple submitters, no conflicts	RASopathy	germline	Detail
Pathogenic	2023-02-22	criteria provided, single submitter	PTPN11-related disorder	germline	Detail
Pathogenic	2023-01-07	criteria provided, multiple submitters, no conflicts	metachondromatosis	unknown	Detail
Pathogenic	2023-01-07	criteria provided, multiple submitters, no conflicts	LEOPARD syndrome 1	germline unknown	Detail
Pathogenic	2022-12-09	criteria provided, multiple submitters, no conflicts	metachondromatosis,LEOPARD syndrome 1,Noonan syndrome 1,juvenile myelomonocytic leukemia	germline unknown	Detail
Pathogenic	2022-12-09	criteria provided, multiple submitters, no conflicts	metachondromatosis,LEOPARD syndrome 1,Noonan syndrome 1,juvenile myelomonocytic leukemia	germline unknown	Detail
Pathogenic	2022-12-09	criteria provided, multiple submitters, no conflicts	metachondromatosis,LEOPARD syndrome 1,Noonan syndrome 1,juvenile myelomonocytic leukemia	germline unknown	Detail
Pathogenic	2022-12-09	criteria provided, multiple submitters, no conflicts	metachondromatosis,LEOPARD syndrome 1,Noonan syndrome 1,juvenile myelomonocytic leukemia	germline unknown	Detail
Pathogenic	2022-07-11	criteria provided, single submitter		germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Turner Syndrome, Male	NA	CLINVAR		Detail

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND Noonan syndrome	ClinVar	Detail
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND Noonan syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND PTPN11-related disorder	ClinVar	Detail
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND Metachondromatosis	ClinVar	Detail
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND LEOPARD syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.794G>A (p.Arg265Gln) AND Cardiovascular phenotype	ClinVar	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: rs376607329 dbSNP
Genome: hg19
Position: chr12:112,910,785-112,910,785
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8594
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 119506
Allele Counts in All Race (ExAC): 5
Heterozygous Counts in All Race (ExAC): 5
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 4.183890348601744E-5

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