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NM_000268.4(NF2):c.1480G>C (p.Asp494His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 30, 2019
Accession:
VCV000972026.2
Variation ID:
972026
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1480G>C (p.Asp494His)

Allele ID
959068
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29678229 (GRCh38) GRCh38 UCSC
22: 30074218 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.79674G>C
LRG_511t1:c.1480G>C
LRG_511t2:c.1480G>C LRG_511p2:p.Asp494His
... more HGVS
Protein change
D452H, D411H, D494H, D453H
Other names
-
Canonical SPDI
NC_000022.11:29678228:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs2067024378
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 Oct 30, 2019 RCV001247953.1
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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
(Oct 30, 2019)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001421409.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces aspartic acid with histidine at codon 494 of the NF2 protein (p.Asp494His). The aspartic acid residue is moderately conserved and there … (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 rs2067024378...

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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