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NM_002834.3:c.1-140delG

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Interpretation:
Benign​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 27, 2015)
Last evaluated:
May 29, 2014
Accession:
VCV000180176.2
Variation ID:
180176
Description:
deletion
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NM_002834.3:c.1-140delG

Allele ID
178359
Variant type
Deletion
Variant length
-
Cytogenetic location
12q24.13
Genomic location
-
HGVS
Nucleotide Protein Molecular
consequence
LRG_614t1:c.1-140del
Protein change
-
Other names
-
Canonical SPDI
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 no assertion criteria provided May 29, 2014 RCV000157024.2
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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
(May 29, 2014)
no assertion criteria provided
Method: clinical testing
Noonan syndrome
Allele origin: unknown
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV000206751.1
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.

Record last updated Nov 27, 2021