chr12:112910835:A>G Detail (hg19) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,910,835-112,910,835
hg38 chr12:112,473,031-112,473,031 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.844A>G NP_002825.3:p.Ile282Val
NM_080601.1:c.844A>G NP_542168.1:p.Ile282Val
NM_001330437.1:c.844A>G NP_001317366.1:p.Ile282Val
Summary

MGeND

Clinical significance Pathogenic
Variant entry 2
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

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 COSM6919376 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic noonan syndrome germline MGS000019
(TMGS000036) 		Yoichi Matsubara National Center for Child Health and Development
Pathogenic noonan syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-10-20 criteria provided, multiple submitters, no conflicts RASopathy germline Detail
Pathogenic 2023-11-09 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2014-05-09 criteria provided, single submitter Noonan syndrome,Noonan syndrome with multiple lentigines germline Detail
Pathogenic 2014-05-09 criteria provided, single submitter Noonan syndrome,Noonan syndrome with multiple lentigines germline Detail
Pathogenic 2024-03-29 criteria provided, multiple submitters, no conflicts Noonan syndrome 1 de novo germline maternal not provided unknown Detail
Pathogenic 2021-10-28 criteria provided, single submitter de novo Detail
Pathogenic 2020-05-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis,Noonan syndrome 1 germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis,Noonan syndrome 1 germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis,Noonan syndrome 1 germline Detail
Pathogenic 2021-12-10 criteria provided, single submitter juvenile myelomonocytic leukemia,LEOPARD syndrome 1,metachondromatosis,Noonan syndrome 1 germline Detail
Pathogenic criteria provided, single submitter Noonan syndrome de novo Detail
Pathogenic 2023-06-05 criteria provided, single submitter germline Detail
Pathogenic 2021-07-07 criteria provided, single submitter LEOPARD syndrome 1,Noonan syndrome 1 de novo Detail
Pathogenic 2021-07-07 criteria provided, single submitter LEOPARD syndrome 1,Noonan syndrome 1 de novo Detail
Pathogenic 2023-08-22 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
0.480 LEOPARD Syndrome Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I28... BeFree 18372317 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND Neurodevelopmental abnormality ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND Cardiovascular phenotype ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.844A>G (p.Ile282Val) AND PTPN11-related disorder ClinVar Detail
NA DisGeNET Detail
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 am... 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
rs397507529 dbSNP
Genome
hg19
Position
chr12:112,910,835-112,910,835
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser