chr12:112450368:A>G Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,172-112,888,172 View the variant detail on this assembly version.
hg38 chr12:112,450,368-112,450,368

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.188A>G NP_002825.3:p.Tyr63Cys
NM_080601.1:c.188A>G NP_542168.1:p.Tyr63Cys
NM_001330437.1:c.188A>G NP_001317366.1:p.Tyr63Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 3
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
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 COSM13038 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic noonan syndrome germline MGS000001
(TMGS000138) 		Kenjiro Kosaki Keio University
Pathogenic noonan syndrome germline MGS000001
(TMGS000154) 		Kenjiro Kosaki Keio University
Pathogenic noonan syndrome germline MGS000073
(TMGS000155) 		Kenjiro Kosaki
 Keio University
IRUD
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Conflicting interpretations of pathogenicity 2023-02-14 criteria provided, conflicting interpretations Noonan syndrome 1 de novo germline maternal unknown Detail
Pathogenic 2024-01-25 criteria provided, multiple submitters, no conflicts RASopathy germline unknown Detail
Pathogenic 2023-08-16 criteria provided, multiple submitters, no conflicts not provided de novo germline unknown Detail
Pathogenic 2017-04-03 reviewed by expert panel Noonan syndrome germline Detail
Pathogenic 2022-01-25 criteria provided, multiple submitters, no conflicts LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia,Noonan syndrome 1 germline unknown Detail
Pathogenic 2022-01-25 criteria provided, multiple submitters, no conflicts LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia,Noonan syndrome 1 germline unknown Detail
Pathogenic 2022-01-25 criteria provided, multiple submitters, no conflicts LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia,Noonan syndrome 1 germline unknown Detail
Pathogenic 2022-01-25 criteria provided, multiple submitters, no conflicts LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia,Noonan syndrome 1 germline unknown Detail
Pathogenic 2016-05-02 criteria provided, single submitter Noonan syndrome 3 germline Detail
Pathogenic 2017-04-26 criteria provided, single submitter B lymphoblastic leukemia lymphoma, no ICD-O subtype,lymphoma germline Detail
Pathogenic 2017-04-26 criteria provided, single submitter B lymphoblastic leukemia lymphoma, no ICD-O subtype,lymphoma germline Detail
Pathogenic 2018-12-10 criteria provided, single submitter metachondromatosis,Noonan syndrome 1,LEOPARD syndrome 1 germline Detail
Pathogenic 2018-12-10 criteria provided, single submitter metachondromatosis,Noonan syndrome 1,LEOPARD syndrome 1 germline Detail
Pathogenic 2018-12-10 criteria provided, single submitter metachondromatosis,Noonan syndrome 1,LEOPARD syndrome 1 germline Detail
Pathogenic 2020-09-14 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2022-04-06 criteria provided, multiple submitters, no conflicts LEOPARD syndrome 1 germline unknown Detail
Pathogenic 2021-02-14 criteria provided, single submitter metachondromatosis unknown Detail
Pathogenic 2023-12-26 criteria provided, multiple submitters, no conflicts PTPN11-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Turner Syndrome, Male NA CLINVAR Detail
0.694 Noonan syndrome NA CLINVAR Detail
0.004 Noonan syndrome Counteracting effects operating on Src homology 2 domain-containing protein-tyro... BeFree 22711529 Detail
0.694 Noonan syndrome Counteracting effects operating on Src homology 2 domain-containing protein-tyro... BeFree 22711529 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND Noonan syndrome 3 ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND LEOPARD syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND Metachondromatosis ClinVar Detail
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) AND PTPN11-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (... DisGeNET Detail
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (... 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
rs121918459 dbSNP
Genome
hg38
Position
chr12:112,450,368-112,450,368
Variant Type
snv
Reference Allele
A
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121398
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)
8.237367996177861E-6
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