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NM_002834.5(PTPN11):c.1600-95C>T

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Sep 14, 2021)
Last evaluated:
Mar 3, 2015
Accession:
VCV000040569.4
Variation ID:
40569
Description:
single nucleotide variant
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NM_002834.5(PTPN11):c.1600-95C>T

Allele ID
49039
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.13
Genomic location
12: 112502049 (GRCh38) GRCh38 UCSC
12: 112939853 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000012.11:g.112939853C>T
NC_000012.12:g.112502049C>T
NG_007459.1:g.88318C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:112502048:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.48822 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.37076
Trans-Omics for Precision Medicine (TOPMed) 0.40535
Trans-Omics for Precision Medicine (TOPMed) 0.41015
1000 Genomes Project 0.51178
The Genome Aggregation Database (gnomAD) 0.37182
Links
ClinGen: CA273714
dbSNP: rs3741983
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Mar 3, 2015 RCV001642533.2
Benign 1 no assertion criteria provided May 29, 2014 RCV000157011.2
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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
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001860504.1
Submitted: (Sep 14, 2021)
Evidence details
Benign
(May 29, 2014)
no assertion criteria provided
Method: clinical testing
Noonan syndrome
Allele origin: unknown
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000206738.1
Submitted: (Jan 27, 2015)
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 rs3741983...

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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