chr12:112450394:G>A Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,198-112,888,198 View the variant detail on this assembly version.
hg38 chr12:112,450,394-112,450,394

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.214G>A NP_002825.3:p.Ala72Thr
NM_080601.1:c.214G>A NP_542168.1:p.Ala72Thr
NM_001330437.1:c.214G>A NP_001317366.1:p.Ala72Thr
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely 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 COSM13014 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-07-29 criteria provided, single submitter RASopathy germline Detail
Likely pathogenic 2016-05-31 no assertion criteria provided neuroblastoma somatic Detail
Likely pathogenic 2016-05-31 no assertion criteria provided Neoplasm of brain 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
Pathogenic 2023-09-18 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2015-02-11 criteria provided, single submitter Noonan syndrome,juvenile myelomonocytic leukemia germline Detail
Likely pathogenic 2015-02-11 criteria provided, single submitter Noonan syndrome,juvenile myelomonocytic leukemia germline Detail
Pathogenic 2018-03-27 criteria provided, single submitter Noonan syndrome 1 de novo Detail
Likely pathogenic 2019-06-01 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.694 Noonan syndrome Wild type SHP-2 and four disease-associated mutants recurring in hematologic mal... BeFree 17177198 Detail
0.002 Hematologic Neoplasms Wild type SHP-2 and four disease-associated mutants recurring in hematologic mal... BeFree 17177198 Detail
0.120 Turner Syndrome, Male NA CLINVAR Detail
0.694 Noonan syndrome NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) AND Neuroblastoma ClinVar Detail
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) AND Neoplasm of brain ClinVar Detail
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) AND B-cell chronic lymphocytic leukemia ClinVar Detail
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) AND Acute myeloid leukemia ClinVar Detail
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia ClinVar Detail
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) AND Noonan Syndrome with Juvenile Myelomonocytic Leukemia ClinVar Detail
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.214G>A (p.Ala72Thr) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys ... DisGeNET Detail
Wild type SHP-2 and four disease-associated mutants recurring in hematologic malignancies (Glu76Lys ... 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
rs121918453 dbSNP
Genome
hg38
Position
chr12:112,450,394-112,450,394
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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