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NM_000268.4(NF2):c.296A>G (p.Lys99Arg)

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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:
VCV000651188.5
Variation ID:
651188
Description:
single nucleotide variant
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NM_000268.4(NF2):c.296A>G (p.Lys99Arg)

Allele ID
649333
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29639145 (GRCh38) GRCh38 UCSC
22: 30035134 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30035134A>G
NC_000022.11:g.29639145A>G
NG_009057.1:g.40590A>G
... more HGVS
Protein change
K99R, K57R
Other names
-
Canonical SPDI
NC_000022.11:29639144:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (G)

Allele frequency
1000 Genomes Project 0.00020
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
Links
dbSNP: rs181794923
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 23, 2020 RCV000806495.3
Uncertain significance 1 criteria provided, single submitter Sep 19, 2019 RCV001017700.1
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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
(Sep 19, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001178822.2
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.K99R variant (also known as c.296A>G), located in coding exon 3 of the NF2 gene, results from an A to G substitution at nucleotide … (more)
Uncertain significance
(Sep 23, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000946499.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces lysine with arginine at codon 99 of the NF2 protein (p.Lys99Arg). 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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Title Author Journal Year Link
In Silico Analysis of NF2 Gene Missense Mutations in Neurofibromatosis Type 2: From Genotype to Phenotype. Heineman TE Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2015 PMID: 25931164

Text-mined citations for rs181794923...

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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