chr12:112450395:C>G Detail (hg38) (PTPN11)

Information

Genome

Assembly Position
hg19 chr12:112,888,199-112,888,199 View the variant detail on this assembly version.
hg38 chr12:112,450,395-112,450,395

HGVS

Type Transcript Protein
RefSeq NM_002834.3:c.215C>G NP_002825.3:p.Ala72Gly
NM_080601.1:c.215C>G NP_542168.1:p.Ala72Gly
NM_001330437.1:c.215C>G NP_001317366.1:p.Ala72Gly
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[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 COSM5945277 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-07-14 criteria provided, multiple submitters, no conflicts Noonan syndrome 1 germline unknown Detail
Pathogenic 2019-03-29 criteria provided, multiple submitters, no conflicts Noonan syndrome germline Detail
Pathogenic 2022-01-31 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic 2017-05-18 criteria provided, single submitter juvenile myelomonocytic leukemia,metachondromatosis,Noonan syndrome 1,LEOPARD syndrome 1 unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter juvenile myelomonocytic leukemia,metachondromatosis,Noonan syndrome 1,LEOPARD syndrome 1 unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter juvenile myelomonocytic leukemia,metachondromatosis,Noonan syndrome 1,LEOPARD syndrome 1 unknown Detail
Pathogenic 2017-05-18 criteria provided, single submitter juvenile myelomonocytic leukemia,metachondromatosis,Noonan syndrome 1,LEOPARD syndrome 1 unknown Detail
Pathogenic 2017-03-11 criteria provided, single submitter Noonan syndrome 3 germline Detail
Pathogenic 2023-08-17 criteria provided, single submitter RASopathy germline Detail
Pathogenic 2021-05-05 criteria provided, single submitter Noonan syndrome and Noonan-related syndrome germline Detail
Pathogenic 2018-06-11 criteria provided, single submitter 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
Annotation

Annotations

DescrptionSourceLinks
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) AND Noonan syndrome 1 ClinVar Detail
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) AND Noonan syndrome ClinVar Detail
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) AND not provided ClinVar Detail
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) AND multiple conditions ClinVar Detail
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) AND Noonan syndrome 3 ClinVar Detail
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) AND RASopathy ClinVar Detail
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) AND Noonan syndrome and Noonan-related syndrome ClinVar Detail
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) AND Cardiovascular phenotype ClinVar Detail
NA 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
rs121918454 dbSNP
Genome
hg38
Position
chr12:112,450,395-112,450,395
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
830
Mean of sample read depth (HGVD)
12.86
Standard deviation of sample read depth (HGVD)
29.61
Number of reference allele (HGVD)
1656
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
6.035003017501509E-4
Gene Symbol (HGVD)
PTPN11
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