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NM_000268.4(NF2):c.-142del

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 20, 2018)
Last evaluated:
Jul 2, 2018
Accession:
VCV000584996.1
Variation ID:
584996
Description:
1bp deletion
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NM_000268.4(NF2):c.-142del

Allele ID
576052
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29603854 (GRCh38) GRCh38 UCSC
22: 29999843 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.5302del
LRG_511t2:c.-142del
NC_000022.10:g.29999846del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:29603853:GGGG:GGG
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1569259403
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 2, 2018 RCV000709604.1
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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
(Jul 02, 2018)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: unknown
Mendelics
Accession: SCV000839510.1
Submitted: (Aug 20, 2018)
Evidence details

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 rs1569259403...

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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