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NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jul 14, 2020)
Last evaluated:
Sep 22, 2015
Accession:
VCV000224414.2
Variation ID:
224414
Description:
single nucleotide variant
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NM_002834.5(PTPN11):c.205G>A (p.Glu69Lys)

Allele ID
226150
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.13
Genomic location
12: 112450385 (GRCh38) GRCh38 UCSC
12: 112888189 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.112888189G>A
NC_000012.12:g.112450385G>A
NG_007459.1:g.36654G>A
... more HGVS
Protein change
E69K, E68K
Other names
-
Canonical SPDI
NC_000012.12:112450384:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA354979
UniProtKB: Q06124#VAR_015993
dbSNP: rs397507511
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 Sep 22, 2015 RCV000210038.1
Likely pathogenic 1 criteria provided, single submitter - RCV001250211.1
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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
(Sep 22, 2015)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: unknown
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children
Accession: SCV000265841.1
Submitted: (Dec 22, 2015)
Evidence details
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Noonan syndrome type 1
Allele origin: de novo
Centogene AG - the Rare Disease Company
Accession: SCV001424481.1
Submitted: (Jul 14, 2020)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs397507511...

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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 Dec 04, 2021