chr12:112488444:G>A 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	chr12:112,926,248-112,926,248 View the variant detail on this assembly version.
hg38	chr12:112,488,444-112,488,444

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.1381G>A	NP_002825.3:p.Ala461Thr
	NM_001330437.1:c.1393G>A	NP_001317366.1:p.Ala465Thr
Ensemble	ENST00000351677.7:c.1381G>A	ENST00000351677.7:p.Ala461Thr
	ENST00000635625.1:c.1393G>A	ENST00000635625.1:p.Ala465Thr
	ENST00000639857.2:c.1381G>A	ENST00000639857.2:p.Ala461Thr
	ENST00000687906.1:c.1267G>A	ENST00000687906.1:p.Ala423Thr
	ENST00000688597.1:c.1224+6239G>A
	ENST00000690210.1:c.1381G>A	ENST00000690210.1:p.Ala461Thr

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM1287456	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Pathogenic	2022-09-06	criteria provided, multiple submitters, no conflicts	not provided	germline	Detail
Pathogenic	2015-02-26	criteria provided, single submitter	Noonan syndrome with multiple lentigines	germline	Detail
Pathogenic	2004-11-01	no assertion criteria provided	LEOPARD syndrome 1	germline unknown	Detail
Pathogenic	2023-01-09	criteria provided, multiple submitters, no conflicts	RASopathy	germline	Detail
Pathogenic	2018-08-07	criteria provided, single submitter	not specified	germline	Detail
Conflicting interpretations of pathogenicity	2024-03-26	criteria provided, conflicting interpretations	Noonan syndrome 1	germline	Detail
Pathogenic	2023-01-18	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

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) AND Noonan syndrome with multiple lentigines	ClinVar	Detail
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) AND LEOPARD syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) AND RASopathy	ClinVar	Detail
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) AND not specified	ClinVar	Detail
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) AND Noonan syndrome 1	ClinVar	Detail
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr) AND PTPN11-related disorder	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: rs121918468 dbSNP
Genome: hg38
Position: chr12:112,488,444-112,488,444
Variant Type: snv
Reference Allele: G
Alternative Allele: A

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