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NM_000268.4(NF2):c.1613dup (p.Leu539fs)

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Interpretation:
Pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Dec 16, 2020)
Last evaluated:
Dec 15, 2020
Accession:
VCV000995902.1
Variation ID:
995902
Description:
1bp duplication
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NM_000268.4(NF2):c.1613dup (p.Leu539fs)

Allele ID
983611
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29681476-29681477 (GRCh38) GRCh38 UCSC
22: 30077465-30077466 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30077466dup
NC_000022.11:g.29681477dup
NG_009057.1:g.82922dup
... more HGVS
Protein change
L456fs, L497fs, L498fs, L539fs
Other names
-
Canonical SPDI
NC_000022.11:29681476:A:AA
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
Pathogenic 1 criteria provided, single submitter Dec 15, 2020 RCV001523833.1
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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
Pathogenic
(Dec 15, 2020)
criteria provided, single submitter
Method: research
Neurofibromatosis, type 2
Allele origin: germline
Department of Pediatrics,Memorial Sloan Kettering Cancer Center
Accession: SCV001478140.1
Submitted: (Dec 16, 2020)
Evidence details
Publications
PubMed (1)

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
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. Mandelker D JAMA 2017 PMID: 28873162

Record last updated Nov 27, 2021