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NM_000268.4(NF2):c.810+8_810+9del

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 10, 2020
Accession:
VCV000578502.4
Variation ID:
578502
Description:
2bp deletion
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NM_000268.4(NF2):c.810+8_810+9del

Allele ID
575246
Variant type
Deletion
Variant length
2 bp
Cytogenetic location
22q12.2
Genomic location
22: 29661347-29661348 (GRCh38) GRCh38 UCSC
22: 30057336-30057337 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000022.11:g.29661347_29661348del
NG_009057.1:g.62792_62793del
NM_016418.5:c.810+8_810+9del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:29661346:AT:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00004
The Genome Aggregation Database (gnomAD) 0.00003
Links
dbSNP: rs760095910
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 10, 2020 RCV000701527.4
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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 10, 2020)
criteria provided, single submitter
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Invitae
Accession: SCV000830330.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change falls in intron 8 of the NF2 gene. It does not directly change the encoded amino acid sequence of the NF2 protein, … (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
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs760095910...

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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 Dec 04, 2021