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NM_000268.4(NF2):c.1055C>T (p.Thr352Met)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Jul 25, 2020
Accession:
VCV000569661.3
Variation ID:
569661
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1055C>T (p.Thr352Met)

Allele ID
571901
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 30067870 (GRCh37) GRCh37 UCSC
22: 29671881 (GRCh38) GRCh38 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30067870C>T
NC_000022.11:g.29671881C>T
NG_009057.1:g.73326C>T
... more HGVS
Protein change
T352M, T269M, T310M, T311M
Other names
-
Canonical SPDI
NC_000022.11:29671880:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00005
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Links
dbSNP: rs764441073
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 Jul 25, 2020 RCV000690349.3
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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
(Jul 25, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000818031.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces threonine with methionine at codon 352 of the NF2 protein (p.Thr352Met). The threonine 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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Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
Effects of Nf2 missense mutations on schwannomin interactions. Scoles DR Biochemical and biophysical research communications 2002 PMID: 11779178
Functional analysis of the neurofibromatosis type 2 protein by means of disease-causing point mutations. Stokowski RP American journal of human genetics 2000 PMID: 10712203
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. Bourn D Human molecular genetics 1994 PMID: 8081368

Text-mined citations for rs764441073...

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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 Dec 04, 2021