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NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
7 (Most recent: Jan 29, 2019)
Last evaluated:
Sep 27, 2016
Accession:
VCV000013339.2
Variation ID:
13339
Description:
single nucleotide variant
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NM_002834.5(PTPN11):c.227A>C (p.Glu76Ala)

Allele ID
28378
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.13
Genomic location
12: 112450407 (GRCh38) GRCh38 UCSC
12: 112888211 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
Q06124:p.Glu76Ala
LRG_614:g.36676A>C
LRG_614t1:c.227A>C
... more HGVS
Protein change
E76A, E75A
Other names
p.E76A:GAG>GCG
Canonical SPDI
NC_000012.12:112450406:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA123047
UniProtKB: Q06124#VAR_015998
OMIM: 176876.0017
dbSNP: rs121918465
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Sep 27, 2016 RCV000033477.5
Pathogenic 1 no assertion criteria provided Jun 1, 2003 RCV000014267.5
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000432192.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000424761.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000424995.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000443046.1
Likely pathogenic 1 no assertion criteria provided May 31, 2016 RCV000444034.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
PTPN11 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
549 563

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 27, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000057382.13
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The E76A variant has been reported previously as a somatic variation in patients diagnosed with Juvenile Myelomonocytic Leukemia (JMML) without Noonan syndrome (Shimada et al., … (more)
Pathogenic
(Jun 01, 2003)
no assertion criteria provided
Method: literature only
LEUKEMIA, JUVENILE MYELOMONOCYTIC, SOMATIC
Allele origin: somatic
OMIM
Accession: SCV000034516.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neoplasm of the large intestine
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507251.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Multiple myeloma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507249.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Neuroblastoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507250.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Astrocytoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507253.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…
Likely pathogenic
(May 31, 2016)
no assertion criteria provided
Method: literature only
Squamous cell lung carcinoma
(Somatic mutation)
Allele origin: somatic
Database of Curated Mutations (DoCM)
Accession: SCV000507252.1
Submitted: (Jul 18, 2016)
Evidence details
Publications
PubMed (1)
Other databases
http://docm.genome.wustl.edu/var…

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity. Chang MT Nature biotechnology 2016 PMID: 26619011
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Tartaglia M Nature genetics 2003 PMID: 12717436
http://docm.genome.wustl.edu/variants/ENST00000351677:c.227A>C - - - -

Text-mined citations for rs121918465...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021