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NM_000268.4(NF2):c.1763G>A (p.Arg588Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 24, 2020
Accession:
VCV000835220.2
Variation ID:
835220
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1763G>A (p.Arg588Gln)

Allele ID
849216
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29694777 (GRCh38) GRCh38 UCSC
22: 30090766 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.96222G>A
LRG_511t1:c.1763G>A
LRG_511t2:c.*35G>A
... more HGVS
Protein change
R158Q, R588Q
Other names
-
Canonical SPDI
NC_000022.11:29694776:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Jun 24, 2020 RCV001036052.2
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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
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 24, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001199399.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with glutamine at codon 588 of the NF2 protein (p.Arg588Gln). The arginine residue is moderately 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.

Record last updated Oct 30, 2021