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NM_000268.4(NF2):c.1231C>T (p.Arg411Cys)

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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 28, 2020
Accession:
VCV000567682.5
Variation ID:
567682
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1231C>T (p.Arg411Cys)

Allele ID
575249
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29673377 (GRCh38) GRCh38 UCSC
22: 30069366 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000268.3:c.1231C>T NP_000259.1:p.Arg411Cys missense
LRG_511:g.74822C>T
LRG_511t1:c.1231C>T LRG_511p1:p.Arg411Cys
... more HGVS
Protein change
R411C, R328C, R369C, R370C
Other names
-
Canonical SPDI
NC_000022.11:29673376:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
dbSNP: rs773296925
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 28, 2020 RCV000687839.3
Uncertain significance 1 criteria provided, single submitter Apr 27, 2019 RCV000791140.2
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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
(Apr 27, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000930414.1
Submitted: (Apr 29, 2019)
Evidence details
Uncertain significance
(Oct 28, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000815427.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with cysteine at codon 411 of the NF2 protein (p.Arg411Cys). The arginine residue is highly 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
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

Text-mined citations for rs773296925...

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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