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NM_000268.4(NF2):c.1052G>A (p.Arg351His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 29, 2020
Accession:
VCV000412205.6
Variation ID:
412205
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1052G>A (p.Arg351His)

Allele ID
403928
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29671878 (GRCh38) GRCh38 UCSC
22: 30067867 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000268.3:c.1052G>A NP_000259.1:p.Arg351His missense
NC_000022.10:g.30067867G>A
LRG_511:g.73323G>A
... more HGVS
Protein change
R351H, R309H, R310H, R268H
Other names
-
Canonical SPDI
NC_000022.11:29671877:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA036706
dbSNP: rs771675702
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 Oct 29, 2020 RCV000457098.4
Uncertain significance 1 criteria provided, single submitter Mar 16, 2019 RCV001017145.1
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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
985 1017

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Oct 29, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000553672.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with histidine at codon 351 of the NF2 protein (p.Arg351His). The arginine residue is highly conserved and there is a … (more)
Uncertain significance
(Mar 16, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001178180.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (2)
Comment:
The p.R351H variant (also known as c.1052G>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
Pathogenic variant burden in the ExAC database: an empirical approach to evaluating population data for clinical variant interpretation. Kobayashi Y Genome medicine 2017 PMID: 28166811
Mutational spectrum of the NF2 gene: a meta-analysis of 12 years of research and diagnostic laboratory findings. Ahronowitz I Human mutation 2007 PMID: 16983642
Mutations of the neurofibromatosis type 2 gene and lack of the gene product in vestibular schwannomas. Sainz J Human molecular genetics 1994 PMID: 7951231

Text-mined citations for rs771675702...

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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