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NM_000268.4(NF2):c.1013G>A (p.Arg338His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Oct 30, 2018
Accession:
VCV000527707.3
Variation ID:
527707
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1013G>A (p.Arg338His)

Allele ID
534305
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29671839 (GRCh38) GRCh38 UCSC
22: 30067828 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.73284G>A
LRG_511t1:c.1013G>A LRG_511p1:p.Arg338His
LRG_511t2:c.1013G>A LRG_511p2:p.Arg338His
... more HGVS
Protein change
R338H, R296H, R255H, R297H
Other names
-
Canonical SPDI
NC_000022.11:29671838:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00003
Links
ClinGen: CA036569
dbSNP: rs768053145
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Jul 2, 2018 RCV000632652.2
Uncertain significance 1 criteria provided, single submitter Oct 30, 2018 RCV001016957.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NF2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
984 1016

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jan 03, 2018)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000753838.1
Submitted: (Apr 02, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with histidine at codon 338 of the NF2 protein (p.Arg338His). The arginine residue is moderately conserved and there is a … (more)
Uncertain significance
(Jul 02, 2018)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: unknown
Mendelics
Accession: SCV000839518.1
Submitted: (Aug 20, 2018)
Evidence details
Uncertain significance
(Oct 30, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001177968.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.R338H variant (also known as c.1013G>A), located in coding exon 11 of the NF2 gene, results from a G to A substitution at nucleotide … (more)

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
[Phenotype-genotype study in 154 French NF2 mutation carriers]. Demange L Revue neurologique 2007 PMID: 18033041

Text-mined citations for rs768053145...

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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 Oct 30, 2021