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NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 27, 2020
Accession:
VCV000527697.6
Variation ID:
527697
Description:
6bp deletion
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NM_000268.4(NF2):c.243_248del (p.Leu82_Asp83del)

Allele ID
534151
Variant type
Deletion
Variant length
6 bp
Cytogenetic location
22q12.2
Genomic location
22: 29639092-29639097 (GRCh38) GRCh38 UCSC
22: 30035081-30035086 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NM_000268.3:c.243_248delACTGGA
NC_000022.11:g.29639092_29639097del
NG_009057.1:g.40537_40542del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:29639091:ACTGGA:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00004
Links
ClinGen: CA030457
dbSNP: rs777858863
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 Oct 27, 2020 RCV000632642.5
Uncertain significance 1 criteria provided, single submitter Nov 16, 2018 RCV001015508.1
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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
Uncertain significance
(Oct 27, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000753827.5
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This variant, c.243_248delACTGGA, results in the deletion of 2 amino acids of the NF2 protein (p.Leu82_Asp83del), but otherwise preserves the integrity of the reading frame. … (more)
Uncertain significance
(Nov 16, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001176350.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.243_248delACTGGA variant (also known as p.L82_D83del) is located in coding exon 3 of the NF2 gene. This variant results from an in-frame ACTGGA deletion … (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

Text-mined citations for rs777858863...

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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 Nov 27, 2021