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NM_000268.4(NF2):c.196T>A (p.Tyr66Asn)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 4, 2019
Accession:
VCV000527688.5
Variation ID:
527688
Description:
single nucleotide variant
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NM_000268.4(NF2):c.196T>A (p.Tyr66Asn)

Allele ID
534688
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29636832 (GRCh38) GRCh38 UCSC
22: 30032821 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.38277T>A
LRG_511t1:c.196T>A LRG_511p1:p.Tyr66Asn
LRG_511t2:c.196T>A LRG_511p2:p.Tyr66Asn
... more HGVS
Protein change
Y66N
Other names
-
Canonical SPDI
NC_000022.11:29636831:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00001
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA030957
dbSNP: rs772274240
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 Nov 4, 2019 RCV000632633.2
Uncertain significance 1 criteria provided, single submitter Jun 29, 2018 RCV001013893.1
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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
(Jun 29, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001174532.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.Y66N variant (also known as c.196T>A), located in coding exon 2 of the NF2 gene, results from a T to A substitution at nucleotide … (more)
Uncertain significance
(Nov 04, 2019)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000753818.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces tyrosine with asparagine at codon 66 of the NF2 protein (p.Tyr66Asn). The tyrosine 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 rs772274240...

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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