chr12:112926909: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	chr12:112,926,909-112,926,909
hg38	chr12:112,489,105-112,489,105 View the variant detail on this assembly version.

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_001330437.1:c.1541A>G	NP_001317366.1:p.Gln514Arg
	NM_002834.3:c.1529A>G	NP_002825.3:p.Gln510Arg
Ensemble	ENST00000688597.1:c.1224+6900A>G
	ENST00000690210.1:c.1529A>G	ENST00000690210.1:p.Gln510Arg
	ENST00000635625.1:c.1541A>G	ENST00000635625.1:p.Gln514Arg
	ENST00000639857.2:c.1529A>G	ENST00000639857.2:p.Gln510Arg
	ENST00000687906.1:c.1415A>G	ENST00000687906.1:p.Gln472Arg
	ENST00000351677.7:c.1529A>G	ENST00000351677.7:p.Gln510Arg

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 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
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2023-02-23	criteria provided, multiple submitters, no conflicts	Noonan syndrome 1	germline unknown	Detail
Pathogenic	2023-07-20	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic Likely pathogenic	2023-09-13	criteria provided, multiple submitters, no conflicts	RASopathy	germline	Detail
Pathogenic		criteria provided, single submitter	LEOPARD syndrome 1	de novo	Detail
Pathogenic	2024-02-08	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
0.480	LEOPARD Syndrome	Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 ge...	BeFree	24939587	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) AND Noonan syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) AND LEOPARD syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) AND Cardiovascular phenotype	ClinVar	Detail
NA	DisGeNET	Detail
Exome sequencing revealed a pathogenic de novo germline variant in the PTPN11 gene (c.1529A>G; p....	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: rs121918470 dbSNP
Genome: hg19
Position: chr12:112,926,909-112,926,909
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8654
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): 121382
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.238453806989504E-6

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