chr12:112450395:C>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	chr12:112,888,199-112,888,199 View the variant detail on this assembly version.
hg38	chr12:112,450,395-112,450,395

HGVS

PTPN11

Type	Transcript	Protein
RefSeq	NM_002834.3:c.215C>T	NP_002825.3:p.Ala72Val
	NM_080601.1:c.215C>T	NP_542168.1:p.Ala72Val
	NM_001330437.1:c.215C>T	NP_001317366.1:p.Ala72Val
Ensemble	ENST00000351677.7:c.215C>T	ENST00000351677.7:p.Ala72Val
	ENST00000392597.5:c.215C>T	ENST00000392597.5:p.Ala72Val
	ENST00000635625.1:c.215C>T	ENST00000635625.1:p.Ala72Val
	ENST00000639857.2:c.215C>T	ENST00000639857.2:p.Ala72Val
	ENST00000687906.1:c.215C>T	ENST00000687906.1:p.Ala72Val
	ENST00000688597.1:c.215C>T	ENST00000688597.1:p.Ala72Val
	ENST00000690210.1:c.215C>T	ENST00000690210.1:p.Ala72Val

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

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

Prediction

ClinVar

Clinical Significance	Conflicting classifications of pathogenicity
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	COSM13015	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
Conflicting interpretations of pathogenicity	2015-05-22	criteria provided, conflicting interpretations	not provided	germline	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	Neoplasm of brain	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	neuroblastoma	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	B-cell chronic lymphocytic leukemia	somatic	Detail
Likely pathogenic	2016-05-31	no assertion criteria provided	acute myeloid leukemia	somatic	Detail
Likely pathogenic	2023-06-25	criteria provided, single submitter	RASopathy	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

Annotation

Annotations

Descrption	Source	Links
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) AND not provided	ClinVar	Detail
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) AND Neoplasm of brain	ClinVar	Detail
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) AND Neuroblastoma	ClinVar	Detail
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) AND B-cell chronic lymphocytic leukemia	ClinVar	Detail
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) AND Acute myeloid leukemia	ClinVar	Detail
NM_002834.5(PTPN11):c.215C>T (p.Ala72Val) AND RASopathy	ClinVar	Detail
NA	DisGeNET	Detail
NA	DisGeNET	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: rs121918454 dbSNP
Genome: hg38
Position: chr12:112,450,395-112,450,395
Variant Type: snv
Reference Allele: C
Alternative Allele: T
Filtering Status (HGVD): LowQual
# of samples (HGVD): 830
Mean of sample read depth (HGVD): 12.86
Standard deviation of sample read depth (HGVD): 29.61
Number of reference allele (HGVD): 1656
Number of alternative allele (HGVD): 2
Allele Frequency (HGVD): 0.0012062726176115801
Gene Symbol (HGVD): PTPN11

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