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NM_000268.4(NF2):c.1600C>T (p.His534Tyr)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 23, 2019
Accession:
VCV000854568.2
Variation ID:
854568
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1600C>T (p.His534Tyr)

Allele ID
849214
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29681464 (GRCh38) GRCh38 UCSC
22: 30077453 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30077453C>T
NC_000022.11:g.29681464C>T
NG_009057.1:g.82909C>T
... more HGVS
Protein change
H451Y, H493Y, H534Y, H492Y
Other names
-
Canonical SPDI
NC_000022.11:29681463:C:T
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 Apr 23, 2019 RCV001059647.1
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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
(Apr 23, 2019)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001224276.2
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces histidine with tyrosine at codon 534 of the NF2 protein (p.His534Tyr). The histidine 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