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NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jun 3, 2020)
Last evaluated:
Feb 4, 2019
Accession:
VCV000164997.3
Variation ID:
164997
Description:
single nucleotide variant
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NM_002834.5(PTPN11):c.206A>T (p.Glu69Val)

Allele ID
175394
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.13
Genomic location
12: 112450386 (GRCh38) GRCh38 UCSC
12: 112888190 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.112888190A>T
NC_000012.12:g.112450386A>T
NM_002834.5:c.206A>T MANE Select NP_002825.3:p.Glu69Val missense
... more HGVS
Protein change
E69V, E68V
Other names
-
Canonical SPDI
NC_000012.12:112450385:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA177668
dbSNP: rs727503380
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Feb 4, 2019 RCV000151687.3
Likely pathogenic 1 criteria provided, single submitter Feb 15, 2016 RCV000589756.1
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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
Likely pathogenic
(Feb 15, 2016)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome 3
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000698067.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (6)
Likely pathogenic
(Feb 04, 2019)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000199996.6
Submitted: (Jun 03, 2020)
Evidence details
Publications
PubMed (6)
Comment:
proposed classification - variant undergoing re-assessment, contact laboratory

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
Progression in patients with low- and intermediate-1-risk del(5q) myelodysplastic syndromes is predicted by a limited subset of mutations. Scharenberg C Haematologica 2017 PMID: 27884971
Parallel targeted next generation sequencing of childhood and adult acute myeloid leukemia patients reveals uniform genomic profile of the disease. Marjanovic I Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine 2016 PMID: 27460089
Clinical and biological implications of driver mutations in myelodysplastic syndromes. Papaemmanuil E Blood 2013 PMID: 24030381
PTPN11 and KRAS gene analysis in patients with Noonan and Noonan-like syndromes. Brasil AS Genetic testing and molecular biomarkers 2010 PMID: 20578946
Effects of germline mutations in the Ras/MAPK signaling pathway on adaptive behavior: cardiofaciocutaneous syndrome and Noonan syndrome. Pierpont EI American journal of medical genetics. Part A 2010 PMID: 20186801
Genotype differences in cognitive functioning in Noonan syndrome. Pierpont EI Genes, brain, and behavior 2009 PMID: 19077116
The RAS/MAPK syndromes: novel roles of the RAS pathway in human genetic disorders. Aoki Y Human mutation 2008 PMID: 18470943
Activating mutations of the noonan syndrome-associated SHP2/PTPN11 gene in human solid tumors and adult acute myelogenous leukemia. Bentires-Alj M Cancer research 2004 PMID: 15604238

Text-mined citations for rs727503380...

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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 Jul 07, 2021