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NM_000268.4(NF2):c.587G>A (p.Arg196Gln)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 28, 2020
Accession:
VCV000826028.3
Variation ID:
826028
Description:
single nucleotide variant
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NM_000268.4(NF2):c.587G>A (p.Arg196Gln)

Allele ID
815172
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29655664 (GRCh38) GRCh38 UCSC
22: 30051653 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30051653G>A
NC_000022.11:g.29655664G>A
NG_009057.1:g.57109G>A
... more HGVS
Protein change
R155Q, R113Q, R154Q, R196Q
Other names
-
Canonical SPDI
NC_000022.11:29655663:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Links
dbSNP: rs749176138
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 Dec 19, 2019 RCV001024635.1
Uncertain significance 1 criteria provided, single submitter Apr 28, 2020 RCV001372483.1
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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
(Dec 19, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001186683.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.R196Q variant (also known as c.587G>A), located in coding exon 6 of the NF2 gene, results from a G to A substitution at nucleotide … (more)
Uncertain significance
(Apr 28, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001569150.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with glutamine at codon 196 of the NF2 protein (p.Arg196Gln). 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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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 rs749176138...

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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