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NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 4, 2020
Accession:
VCV001043876.1
Variation ID:
1043876
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1237A>G (p.Lys413Glu)

Allele ID
1035125
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29673383 (GRCh38) GRCh38 UCSC
22: 30069372 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.74828A>G
LRG_511t2:c.1237A>G LRG_511p2:p.Lys413Glu
NC_000022.10:g.30069372A>G
... more HGVS
Protein change
K330E, K371E, K413E, K372E
Other names
-
Canonical SPDI
NC_000022.11:29673382:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
dbSNP: rs766974263
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 Aug 4, 2020 RCV001348048.1
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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
(Aug 04, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001542335.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (6)
Comment:
This sequence change replaces lysine with glutamic acid at codon 413 of the NF2 protein (p.Lys413Glu). The lysine residue is moderately conserved and there is … (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 vivo functional analysis of the human NF2 tumor suppressor gene in Drosophila. Gavilan HS PloS one 2014 PMID: 24595234
Neuronal merlin influences ERBB2 receptor expression on Schwann cells through neuregulin 1 type III signalling. Schulz A Brain : a journal of neurology 2014 PMID: 24309211
Binding of the merlin-I product of the neurofibromatosis type 2 tumour suppressor gene to a novel site in beta-fodrin is regulated by association between merlin domains. Neill GW The Biochemical journal 2001 PMID: 11535133
Increased expression of the NF2 tumor suppressor gene product, merlin, impairs cell motility, adhesionand spreading. Gutmann DH Human molecular genetics 1999 PMID: 9931334
Defects in neurofibromatosis 2 protein function can arise at multiple levels. Gutmann DH Human molecular genetics 1998 PMID: 9466988
Eleven novel mutations in the NF2 tumour suppressor gene. Bourn D Human genetics 1995 PMID: 7759081

Text-mined citations for rs766974263...

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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