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NM_000268.4(NF2):c.447+15_447+17del

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Aug 14, 2020
Accession:
VCV000527721.3
Variation ID:
527721
Description:
3bp microsatellite
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NM_000268.4(NF2):c.447+15_447+17del

Allele ID
534160
Variant type
Microsatellite
Variant length
3 bp
Cytogenetic location
22q12.2
Genomic location
22: 29642295-29642297 (GRCh38) GRCh38 UCSC
22: 30038284-30038286 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.43742GAA[1]
LRG_511t2:c.447+15_447+17del
NM_000268.3:c.447+15_447+17delGAA
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:29642294:AAGAAGAA:AAGAA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA658799540
dbSNP: rs1555988797
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Sep 7, 2018 RCV000632669.2
Likely benign 1 criteria provided, single submitter Aug 14, 2020 RCV001412162.1
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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
Likely benign
(Sep 07, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV000753855.2
Submitted: (Mar 14, 2019)
Evidence details
Likely benign
(Aug 14, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV001614240.1
Submitted: (Jan 07, 2021)
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 rs1555988797...

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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