View genomic variant #0000002981

Chromosome 22
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
Type subst
DNA change (genomic) (Relative to hg19 / GRCh37) g.30070871G>T
Published as -
GERP 5.600
Segregation -
DB-ID NF2_000017 See all 2 reported entries
MSCV MSCV_0002981
dbSNP ID rs74315503
Frequency -
Sources ; clinvar;
Reference 7913580
Variant remarks -
Genetic origin -
Average frequency (large NGS studies) Variant not found in online data sets
Owner LOVD




Variant on transcripts

1 entry on 1 page. Showing entry 1.
Legend  

Gene     

Transcript ID     

AscendingTranscript     

Variant ID     

Affects function     

DNA change (cDNA)     

Protein     

GVS function     

Position     

Exon     

PolyPhen     

RNA change     

SIFT     
NF2 00003146 NM_000268.3 0000002981 +/+ c.1387G>T p.(Glu463*) stop_gained - 13/16 - r.(?) -
Legend  


ClinVar @ MSeqDR

RCVaccession RCV000574319; RCV000232242;
Chromosome 22:30070871..30070871
Allele frequencies from ESP 0.0007
Allele frequencies from ExAC 0.00038
Allele frequencies from TGP 0.0002
ClinVar Allele ID 243699
Disease database name and identifier MedGen:C0027672, SNOMED CT:699346009|MedGen:C0027832, OMIM:101000, Orphanet:ORPHA637, SNOMED CT:92503002
ClinVar preferred disease name Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 2
HGVS variant names NC 000022.10:g.30070871G>A
ClinVar review status criteria provided, conflicting interpretations
Clinical Significance Conflicting interpretations of pathogenicity
Conflicting clinical significance Likely benign(1), Uncertain significance(1)
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported UniProtKB (protein):P35240#VAR 035848
Gene symbol:Gene id. NF2:4771
Molecular consequence SO:0001583|missense variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 74315503
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR

RCVaccession RCV000003455;
Chromosome 22:30070871..30070871
ClinVar Allele ID 18333
Disease database name and identifier MedGen:C0027832, OMIM:101000, Orphanet:ORPHA637, SNOMED CT:92503002
ClinVar preferred disease name Neurofibromatosis, type 2
HGVS variant names NC 000022.10:g.30070871G>T
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported OMIM Allelic Variant:607379.0013
Gene symbol:Gene id. NF2:4771
Molecular consequence SO:0001587|nonsense, SO:0001627|intron variant
Allele origin germline
dbSNP ID 74315503
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

variation_namechromseq_region_startseq_region_endallele_stringminor_alleleminor_allele_freqvariation_setPhenotype_description
rs74315503223007087130070871G/T/AOMIM phenotype variantsNEUROFIBROMATOSIS, TYPE II
rs74315503223007087130070871G/T/AOMIM phenotype variantsNeurofibromatosis, type 2
CM941105223007087130070871HGMD_MUTATIONHGMD-PUBLIC variantsAnnotated by HGMD but no phenotype description is publicly available