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NM_000268.4(NF2):c.342ACA[1] (p.Gln115del)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 4, 2020
Accession:
VCV000823788.3
Variation ID:
823788
Description:
3bp microsatellite
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NM_000268.4(NF2):c.342ACA[1] (p.Gln115del)

Allele ID
815167
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
22q12.2
Genomic location
22: 29639191-29639193 (GRCh38) GRCh38 UCSC
22: 30035180-30035182 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.10:g.30035180ACA[1]
NC_000022.11:g.29639191ACA[1]
NM_000268.4:c.342ACA[1] MANE Select NP_000259.1:p.Gln115del
... more HGVS
Protein change
Q73del, Q115del
Other names
-
Canonical SPDI
NC_000022.11:29639190:ACAACA:ACA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1601583772
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 Aug 8, 2019 RCV001020335.1
Uncertain significance 1 criteria provided, single submitter Mar 4, 2020 RCV001308325.1
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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
984 1016

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 08, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV001181800.2
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The c.345_347delACA variant (also known as p.Q115del) is located in coding exon 3 of the NF2 gene. This variant results from an in-frame ACA deletion … (more)
Uncertain significance
(Mar 04, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001497770.1
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This variant, c.345_347del, results in the deletion of 1 amino acid(s) of the NF2 protein (p.Gln115del), but otherwise preserves the integrity of the reading frame. … (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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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 rs1601583772...

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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 May 28, 2021