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NM_000268.4(NF2):c.1737+2098A>G

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Interpretation:
Uncertain significance​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Aug 10, 2016)
Last evaluated:
Dec 19, 2015
Accession:
VCV000135570.1
Variation ID:
135570
Description:
single nucleotide variant
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NM_000268.4(NF2):c.1737+2098A>G

Allele ID
139309
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
22q12.2
Genomic location
22: 29683699 (GRCh38) GRCh38 UCSC
22: 30079688 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_511:g.85144A>G
LRG_511t2:c.*9+635A>G
NC_000022.10:g.30079688A>G
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000022.11:29683698:A:G
Functional consequence
-
Global minor allele frequency (GMAF)
0.00120 (G)

Allele frequency
1000 Genomes Project 0.00120
The Genome Aggregation Database (gnomAD) 0.00048
Trans-Omics for Precision Medicine (TOPMed) 0.00050
Links
ClinGen: CA021377
dbSNP: rs75296199
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 no assertion criteria provided Dec 19, 2015 RCV000415693.1
not provided 1 no assertion provided Sep 19, 2013 RCV000122432.1
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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
(Dec 19, 2015)
no assertion criteria provided
Method: clinical testing
Neurofibromatosis, type 2
Allele origin: germline
Knight Diagnostic Laboratories, Oregon Health and Sciences University
Study: CSER-NextGen
Accession: SCV000493776.1
Submitted: (Aug 10, 2016)
Evidence details
not provided
(Sep 19, 2013)
no assertion provided
Method: reference population
AllHighlyPenetrant
Allele origin: germline
ITMI
Accession: SCV000083983.1
Submitted: (May 29, 2014)
Comment:
Please see associated publication for description of ethnicities
Evidence details
Publications
PubMed (1)

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
Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. Bodian DL PloS one 2014 PMID: 24728327

Text-mined citations for rs75296199...

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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