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NM_000268.4(NF2):c.683A>G (p.Lys228Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 31, 2020
Accession:
VCV000527691.6
Variation ID:
527691
Description:
single nucleotide variant
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NM_000268.4(NF2):c.683A>G (p.Lys228Arg)

Allele ID
534180
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29661212 (GRCh38) GRCh38 UCSC
22: 30057201 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.62657A>G
LRG_511t1:c.683A>G LRG_511p1:p.Lys228Arg
LRG_511t2:c.683A>G LRG_511p2:p.Lys228Arg
... more HGVS
Protein change
K228R, K186R, K187R, K145R
Other names
-
Canonical SPDI
NC_000022.11:29661211:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA034790
dbSNP: rs145384260
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 Mar 31, 2020 RCV000632636.4
Uncertain significance 1 criteria provided, single submitter Jun 7, 2019 RCV001025713.1
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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
(Jun 07, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001187957.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.K228R variant (also known as c.683A>G), located in coding exon 8 of the NF2 gene, results from an A to G substitution at nucleotide … (more)
Uncertain significance
(Mar 31, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000753821.4
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with arginine at codon 228 of the NF2 protein (p.Lys228Arg). The lysine 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs145384260...

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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