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NM_000268.4(NF2):c.1661G>A (p.Arg554Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 23, 2019
Accession:
VCV000960618.2
Variation ID:
960618
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1661G>A (p.Arg554Lys)

Allele ID
951419
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29681525 (GRCh38) GRCh38 UCSC
22: 30077514 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.11:g.29681525G>A
NG_009057.1:g.82970G>A
NM_000268.4:c.1661G>A MANE Select NP_000259.1:p.Arg554Lys missense
... more HGVS
Protein change
R513K, R512K, R554K, R471K
Other names
-
Canonical SPDI
NC_000022.11:29681524:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2067134618
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, 2019 RCV001234174.1
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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 23, 2019)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001406806.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces arginine with lysine at codon 554 of the NF2 protein (p.Arg554Lys). 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.

Text-mined citations for rs2067134618...

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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