chr12:112453279:G>C Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,891,083-112,891,083 View the variant detail on this assembly version.
hg38 chr12:112,453,279-112,453,279

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.417G>C NP_002825.3:p.Glu139Asp
NM_080601.1:c.417G>C NP_542168.1:p.Glu139Asp
NM_001330437.1:c.417G>C NP_001317366.1:p.Glu139Asp
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 tgv381245155 TogoVar
COSMIC COSM13018 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic noonan syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic noonan syndrome germline MGS000088
(TMGS000177) 		Tatsuo Matsunaga National Hospital Organization Tokyo Medical Center 39755840
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2023-12-19 criteria provided, single submitter RASopathy germline unknown Detail
Pathogenic 2023-10-02 criteria provided, multiple submitters, no conflicts not provided germline paternal unknown Detail
Pathogenic Likely pathogenic 2024-03-14 criteria provided, multiple submitters, no conflicts Noonan syndrome 1 de novo germline maternal unknown Detail
Pathogenic 2021-07-17 criteria provided, single submitter Noonan syndrome 1,LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2021-07-17 criteria provided, single submitter Noonan syndrome 1,LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2021-07-17 criteria provided, single submitter Noonan syndrome 1,LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2021-07-17 criteria provided, single submitter Noonan syndrome 1,LEOPARD syndrome 1,metachondromatosis,juvenile myelomonocytic leukemia unknown Detail
Pathogenic 2017-04-03 reviewed by expert panel Noonan syndrome germline Detail
Pathogenic 2017-08-28 criteria provided, single submitter Noonan syndrome 3 germline Detail
Pathogenic 2021-04-16 criteria provided, single submitter germline Detail
Pathogenic 2017-01-01 criteria provided, single submitter hypertrophic cardiomyopathy unknown Detail
Pathogenic 2018-12-07 criteria provided, single submitter juvenile myelomonocytic leukemia,Noonan syndrome germline Detail
Pathogenic 2018-12-07 criteria provided, single submitter juvenile myelomonocytic leukemia,Noonan syndrome germline Detail
Pathogenic no assertion criteria provided Global developmental delay,Pectus excavatum,ptosis,microcephaly unknown Detail
Pathogenic no assertion criteria provided Global developmental delay,Pectus excavatum,ptosis,microcephaly unknown Detail
Pathogenic no assertion criteria provided Global developmental delay,Pectus excavatum,ptosis,microcephaly unknown Detail
Pathogenic no assertion criteria provided Global developmental delay,Pectus excavatum,ptosis,microcephaly unknown Detail
Pathogenic 2020-10-14 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2023-03-07 criteria provided, single submitter metachondromatosis unknown Detail
Pathogenic 2023-03-07 criteria provided, single submitter LEOPARD syndrome 1 unknown Detail
Pathogenic 2023-02-01 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
0.582 juvenile myelomonocytic leukemia NA CLINVAR Detail
0.480 LEOPARD Syndrome Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I28... BeFree 18372317 Detail
0.582 juvenile myelomonocytic leukemia Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia ... BeFree 22315187 Detail
0.002 Acute lymphocytic leukemia Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia ... BeFree 22315187 Detail
0.694 Noonan syndrome Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia ... BeFree 22315187 Detail
0.009 Precursor Cell Lymphoblastic Leukemia Lymphoma Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia ... BeFree 22315187 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND Noonan syndrome 3 ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND Cardiovascular phenotype ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND Hypertrophic cardiomyopathy ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia... ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia... ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND Metachondromatosis ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND LEOPARD syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) AND PTPN11-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 am... DisGeNET Detail
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with No... DisGeNET Detail
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with No... DisGeNET Detail
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with No... DisGeNET Detail
Occurrence of acute lymphoblastic leukemia and juvenile myelomonocytic leukemia in a patient with No... 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
rs397507520 dbSNP
Genome
hg38
Position
chr12:112,453,279-112,453,279
Variant Type
snv
Reference Allele
G
Alternative Allele
C
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