chr12:112473023:A>G Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,910,827-112,910,827 View the variant detail on this assembly version.
hg38 chr12:112,473,023-112,473,023

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.836A>G NP_002825.3:p.Tyr279Cys
NM_080601.1:c.836A>G NP_542168.1:p.Tyr279Cys
NM_001330437.1:c.836A>G NP_001317366.1:p.Tyr279Cys
Summary

MGeND

Clinical significance Pathogenic
Variant entry 6
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 COSM1731441 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Pathogenic leopard syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
Pathogenic noonan syndrome germline MGS000001
(TMGS000137) 		Kenjiro Kosaki Keio University
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
Pathogenic noonan syndrome germline MGS000001
(TMGS000179) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-04-22 criteria provided, single submitter Noonan syndrome with multiple lentigines germline Detail
Pathogenic 2024-01-05 criteria provided, multiple submitters, no conflicts RASopathy germline unknown Detail
Pathogenic 2023-08-16 criteria provided, multiple submitters, no conflicts LEOPARD syndrome 1 de novo germline unknown Detail
Pathogenic 2023-06-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2014-12-30 criteria provided, single submitter CBL-related disorder germline Detail
Pathogenic Likely pathogenic 2024-03-25 criteria provided, multiple submitters, no conflicts Noonan syndrome 1 de novo germline unknown Detail
Pathogenic 2022-10-03 criteria provided, single submitter germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis germline Detail
Pathogenic 2021-11-22 criteria provided, single submitter LEOPARD syndrome 1,juvenile myelomonocytic leukemia,Noonan syndrome 1,metachondromatosis germline Detail
Pathogenic 2013-04-09 criteria provided, single submitter Noonan syndrome,Noonan syndrome with multiple lentigines germline Detail
Pathogenic 2013-04-09 criteria provided, single submitter Noonan syndrome,Noonan syndrome with multiple lentigines germline Detail
Pathogenic 2018-09-09 criteria provided, single submitter not specified germline Detail
Pathogenic 2021-03-30 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2022-11-29 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
0.694 Noonan syndrome NA CLINVAR Detail
0.001 Exanthema We hypothesise that some PTPN11 mutations are associated with the typical Noonan... BeFree 12161596 Detail
0.480 LEOPARD Syndrome LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous ma... BeFree 19768645 Detail
0.001 Multiple lentigines In the present series of patients from one family, all patients carry the same r... BeFree 24401936 Detail
0.480 LEOPARD Syndrome Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid su... BeFree 16358218 Detail
0.001 Spots on skin We hypothesise that some PTPN11 mutations are associated with the typical Noonan... BeFree 12161596 Detail
<0.001 Dwarfism We conclude that each mutation contributed independently to individual features ... BeFree 19725129 Detail
0.694 Noonan syndrome We hypothesise that some PTPN11 mutations are associated with the typical Noonan... BeFree 12161596 Detail
0.002 Dwarfism Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature... BeFree 21339643 Detail
0.002 Dwarfism We conclude that each mutation contributed independently to individual features ... BeFree 19725129 Detail
0.001 Multiple lentigines We hypothesise that some PTPN11 mutations are associated with the typical Noonan... BeFree 12161596 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND Noonan syndrome with multiple lentigines ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND LEOPARD syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND CBL-related disorder ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND Cardiovascular phenotype ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND not specified ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) AND PTPN11-related disorder ClinVar Detail
NA DisGeNET Detail
NA DisGeNET Detail
We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype ... DisGeNET Detail
LEOPARD syndrome with recurrent PTPN11 mutation Y279C and different cutaneous manifestations: two ca... DisGeNET Detail
In the present series of patients from one family, all patients carry the same recurrent mutation Y2... DisGeNET Detail
Furthermore, we show that the recurrent LS-causing Y279C and T468M amino acid substitutions engender... DisGeNET Detail
We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype ... DisGeNET Detail
We conclude that each mutation contributed independently to individual features in the ocular and ca... DisGeNET Detail
We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype ... DisGeNET Detail
Ptpn11(Y279C/+) (LS/+) mice recapitulated the human disorder, with short stature, craniofacial dysmo... DisGeNET Detail
We conclude that each mutation contributed independently to individual features in the ocular and ca... DisGeNET Detail
We hypothesise that some PTPN11 mutations are associated with the typical Noonan syndrome phenotype ... 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
rs121918456 dbSNP
Genome
hg38
Position
chr12:112,473,023-112,473,023
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser