chr12:112473040:T>C 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	chr12:112,910,844-112,910,844 View the variant detail on this assembly version.
hg38	chr12:112,473,040-112,473,040

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.853T>C	NP_002825.3:p.Phe285Leu
	NM_080601.1:c.853T>C	NP_542168.1:p.Phe285Leu
	NM_001330437.1:c.853T>C	NP_001317366.1:p.Phe285Leu
Ensemble	ENST00000351677.7:c.853T>C	ENST00000351677.7:p.Phe285Leu
	ENST00000392597.5:c.853T>C	ENST00000392597.5:p.Phe285Leu
	ENST00000635625.1:c.853T>C	ENST00000635625.1:p.Phe285Leu
	ENST00000639857.2:c.853T>C	ENST00000639857.2:p.Phe285Leu
	ENST00000687906.1:c.739T>C	ENST00000687906.1:p.Phe247Leu
	ENST00000688597.1:c.853T>C	ENST00000688597.1:p.Phe285Leu
	ENST00000690210.1:c.853T>C	ENST00000690210.1:p.Phe285Leu

Summary

MGeND

Clinical significance	Likely pathogenic Pathogenic
Variant entry	3
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

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	COSM5945279	COSMIC
	MONDO

Disease area statistics

MGeND

Clinical significance	Last evaluated	Condition	Origin	Submission ID	Submitter	Institute	Citation	Comment	Image
Likely pathogenic		noonan syndrome	germline	MGS000001 (TMGS000137)	Kenjiro Kosaki	Keio University
Pathogenic		noonan syndrome	germline	MGS000073 (TMGS000145)	Kenjiro Kosaki	Keio University IRUD
Pathogenic		noonan syndrome	germline	MGS000073 (TMGS000155)	Kenjiro Kosaki	Keio University IRUD

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2012-06-26	criteria provided, single submitter	Noonan syndrome	germline	Detail
Pathogenic	2024-01-01	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2023-06-29	criteria provided, single submitter	RASopathy	germline	Detail
Pathogenic	2016-08-15	criteria provided, single submitter	Noonan syndrome 3	germline	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Noonan syndrome 1,LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Noonan syndrome 1,LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Noonan syndrome 1,LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia	unknown	Detail
Pathogenic	2018-10-31	criteria provided, single submitter	Noonan syndrome 1,LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia	unknown	Detail
Pathogenic	2023-02-23	criteria provided, multiple submitters, no conflicts	Noonan syndrome 1	de novo unknown	Detail
Pathogenic	2021-12-15	criteria provided, single submitter	LEOPARD syndrome 1	germline	Detail
Pathogenic	2024-02-16	criteria provided, single submitter		germline	Detail
Pathogenic	2024-01-13	criteria provided, single submitter	PTPN11-related disorder	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.120	Turner Syndrome, Male	NA	CLINVAR		Detail
0.001	Exanthema	We suggest that the atypical severe symptoms in the index patient may be caused ...	BeFree	19120036	Detail
0.001	Spots on skin	We suggest that the atypical severe symptoms in the index patient may be caused ...	BeFree	19120036	Detail

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND Noonan syndrome	ClinVar	Detail
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND Noonan syndrome 3	ClinVar	Detail
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND multiple conditions	ClinVar	Detail
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND Noonan syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND LEOPARD syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND Cardiovascular phenotype	ClinVar	Detail
NM_002834.5(PTPN11):c.853T>C (p.Phe285Leu) AND PTPN11-related disorder	ClinVar	Detail
NA	DisGeNET	Detail
We suggest that the atypical severe symptoms in the index patient may be caused by an additive effec...	DisGeNET	Detail
We suggest that the atypical severe symptoms in the index patient may be caused by an additive effec...	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: rs397507531 dbSNP
Genome: hg38
Position: chr12:112,473,040-112,473,040
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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