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NM_000268.4(NF2):c.185T>C (p.Phe62Ser)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Aug 1, 2002
Accession:
VCV000003297.1
Variation ID:
3297
Description:
single nucleotide variant
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NM_000268.4(NF2):c.185T>C (p.Phe62Ser)

Allele ID
18336
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29636821 (GRCh38) GRCh38 UCSC
22: 30032810 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P35240:p.Phe62Ser
NC_000022.10:g.30032810T>C
NC_000022.11:g.29636821T>C
... more HGVS
Protein change
F62S
Other names
-
Canonical SPDI
NC_000022.11:29636820:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA021406
UniProtKB: P35240#VAR_000810
OMIM: 607379.0016
dbSNP: rs121434261
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Aug 1, 2002 RCV000003458.3
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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
984 1016

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 01, 2002)
no assertion criteria provided
Method: literature only
NEUROFIBROMATOSIS, TYPE II
Allele origin: germline
OMIM
Accession: SCV000023616.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (3)

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
Paxillin binds schwannomin and regulates its density-dependent localization and effect on cell morphology. Fernandez-Valle C Nature genetics 2002 PMID: 12118253
A missense mutation in the neurofibromatosis 2 gene occurs in patients with mild and severe phenotypes. Scoles DR Neurology 1996 PMID: 8757035
Germline mutations in the neurofibromatosis type 2 tumour suppressor gene. Bourn D Human molecular genetics 1994 PMID: 8081368

Text-mined citations for rs121434261...

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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 24, 2021