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NM_000268.4(NF2):c.1232G>A (p.Arg411His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
May 26, 2020
Accession:
VCV000527695.8
Variation ID:
527695
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1232G>A (p.Arg411His)

Allele ID
534181
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29673378 (GRCh38) GRCh38 UCSC
22: 30069367 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000268.3:c.1232G>A NP_000259.1:p.Arg411His missense
NC_000022.10:g.30069367G>A
NC_000022.11:g.29673378G>A
... more HGVS
Protein change
R411H, R328H, R369H, R370H
Other names
-
Canonical SPDI
NC_000022.11:29673377:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD) 0.00001
Exome Aggregation Consortium (ExAC) 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA037304
dbSNP: rs201214090
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 May 26, 2020 RCV000632640.4
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765629.1
Uncertain significance 1 criteria provided, single submitter Feb 7, 2019 RCV001010465.1
Uncertain significance 1 criteria provided, single submitter Dec 5, 2019 RCV001198705.1
Uncertain significance 1 no assertion criteria provided Jan 22, 2020 RCV001249076.1
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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
(May 26, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000753825.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with histidine at codon 411 of the NF2 protein (p.Arg411His). The arginine residue is highly conserved and there is a … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Schwannomatosis 1
Meningioma, familial
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000896954.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Feb 07, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001170667.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.R411H variant (also known as c.1232G>A), located in coding exon 12 of the NF2 gene, results from a G to A substitution at nucleotide … (more)
Uncertain significance
(Dec 05, 2019)
criteria provided, single submitter
Method: clinical testing
Meningioma, familial
Allele origin: unknown
Centre for Mendelian Genomics,University Medical Centre Ljubljana
Accession: SCV001369700.2
Submitted: (Nov 24, 2020)
Evidence details
Comment:
This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in … (more)
Uncertain significance
(Jan 22, 2020)
no assertion criteria provided
Method: curation
Not Specified
Allele origin: germline
Broad Institute Rare Disease Group, Broad Institute
Accession: SCV001423027.1
Submitted: (Mar 09, 2020)
Evidence details
Other databases
https://erepo.clinicalgenome.org…
Comment:
The p.Arg411His variant in NF2 has not been previously reported in individuals with Neurofibromatosis but has been identified in 0.01181% (4/33872) of Latino chromosomes, 0.003403% … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868
https://erepo.clinicalgenome.org/evrepo/ui/interpretation/fb0aaa75-a313-4974-a245-5c4f267dc447 - - - -

Text-mined citations for rs201214090...

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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