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NM_000268.4(NF2):c.1253G>A (p.Arg418His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 23, 2020
Accession:
VCV000412206.5
Variation ID:
412206
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1253G>A (p.Arg418His)

Allele ID
403931
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29673399 (GRCh38) GRCh38 UCSC
22: 30069388 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000268.3:c.1253G>A NP_000259.1:p.Arg418His missense
NC_000022.10:g.30069388G>A
LRG_511:g.74844G>A
... more HGVS
Protein change
R418H, R376H, R335H, R377H
Other names
-
Canonical SPDI
NC_000022.11:29673398:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
ClinGen: CA029295
dbSNP: rs548217466
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 10, 2020 RCV000466433.3
Uncertain significance 1 criteria provided, single submitter Sep 23, 2020 RCV000569005.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
NF2 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
985 1017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 23, 2020)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000674149.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.R418H variant (also known as c.1253G>A), located in coding exon 12 of the NF2 gene, results from a G to A substitution at nucleotide … (more)
Uncertain significance
(Sep 10, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000553673.4
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with histidine at codon 418 of the NF2 protein (p.Arg418His). The arginine residue is moderately conserved and there is a … (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
Exon scanning for mutation of the NF2 gene in schwannomas. Jacoby LB Human molecular genetics 1994 PMID: 8012353

Text-mined citations for rs548217466...

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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