View genomic variant #0000019902

Chromosome	22
Allele	Unknown
Affects function (as reported)	Affects function
Affects function (by curator)	Affects function
Type	-
DNA change (genomic) (Relative to hg19 / GRCh37)	g.30070880C>T
Published as	-
GERP	-
Segregation	-
DB-ID	NF2_000008 See all 2 reported entries
MSCV	MSCV_0000912
dbSNP ID	-
Frequency	-
Sources	; clinvar;
Reference	-
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	Variant not found in online data sets
Owner	LOVD

Variant on transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

Affects function: The variant's effect on the protein's function, in the format 'R/C' where R is the value reported by the source and C is the value concluded by the curator; '+' indicating the variant affects function, '+?' probably affects function, '+*' affects function, not associated with individual's disease phenotype, '#' affects function, not associated with any known disease phenotype, '-' does not affect function, '-?' probably does not affect function, '?' effect unknown, '.' effect not classified.

DNA change (cDNA): Description of variant at DNA level, based on a coding DNA reference sequence (following HGVS recommendations); e.g. c.123C>T, c.123_145del, c.123_126dup.

Protein: Description of variant at protein level (following HGVS recommendations).

p.(Arg345Pro) = change predicted from DNA (RNA not analysed)
p.Arg345Pro = change derived from RNA analysis
p.? = unknown effect
p.0? = probably no protein produced

GVS function: The functional annotation of this position from the Genome Variation Server.
All options:

intergenic
near-gene-5
utr-5
coding
coding-near-splice
coding-synonymous
coding-synonymous-near-splice
codingComplex
codingComplex-near-splice
frameshift
frameshift-near-splice
missense
missense-near-splice
splice-5
intron
splice-3
stop-gained
stop-gained-near-splice
stop-lost
stop-lost-near-splice
utr-3
near-gene-3

Position: Position of variant in coding DNA sequence; note that coding DNA position can also be derived from the variant description.

Exon: Number of exon/intron containing variant; 2 = exon 2, 12i = intron 12, 2i_7i = exons 3 to 7, 8i_9 = border intron 8/exon 9.

PolyPhen: Effect of variant, predicted by PolyPhen.
All options:

benign = Benign
possiblyDamaging = Possibly damaging
probablyDamaging = Probably damaging
noPrediction = No prediction

RNA change: Description of variant at RNA level (following HGVS recommendations).

r.123c>u
r.? = unknown
r.(?) = RNA not analysed but probably transcribed copy of DNA variant
r.spl? = RNA not analysed but variant probably affects splicing
r.(spl?) = RNA not analysed but variant may affect splicing
r.0? = change expected to abolish transcription

SIFT: SIFT Annotation

1 entry on 1 page. Showing entry 1.

Legend

Gene	Transcript ID	Transcript	Variant ID	Affects function	DNA change (cDNA)	Protein	GVS function	Position	Exon	PolyPhen	RNA change	SIFT
NF2	00003146	NM_000268.3	0000019902	./.	c.1396C>T	p.(Arg466*)	-	-	-	-	r.(?)	-

Legend

ClinVar @ MSeqDR
RCVaccession	RCV002389124;
Chromosome	22:30070880..30070880
ClinVar Allele ID	1832843
Disease database name and identifier	MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162
ClinVar preferred disease name	Hereditary cancer-predisposing syndrome
HGVS variant names	NC 000022.10:g.30070880C>A
ClinVar review status	criteria provided, single submitter
Clinical Significance	Likely benign
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Gene symbol:Gene id.	NF2:4771
Molecular consequence	SO:0001619\|non-coding transcript variant, SO:0001627\|intron variant, SO:0001819\|synonymous variant
Allele origin	germline
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000459035; RCV002393164; RCV003463972;
Chromosome 22:30070880..30070880
ClinVar Allele ID 404358
Disease database name and identifier MONDO:MONDO:0011789, MedGen:C3551915, OMIM:607174, Orphanet:263662|MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007039, MedGen:C0027832, OMIM:101000, Orphanet:637
ClinVar preferred disease name Familial meningioma|Hereditary cancer-predisposing syndrome|Neurofibromatosis, type 2
HGVS variant names NC 000022.10:g.30070880C>G
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Uncertain significance
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA16616585
Gene symbol:Gene id. NF2:4771
Molecular consequence SO:0001583|missense variant, SO:0001619|non-coding transcript variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 74315504
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000003456; RCV000992438; RCV002390087;
Chromosome 22:30070880..30070880
ClinVar Allele ID 18334
Disease database name and identifier MONDO:MONDO:0015356, MeSH:D009386, MedGen:C0027672, Orphanet:140162|MedGen:C3661900|MONDO:MONDO:0007039, MedGen:C0027832, OMIM:101000, Orphanet:637
ClinVar preferred disease name Hereditary cancer-predisposing syndrome|not provided|Neurofibromatosis, type 2
HGVS variant names NC 000022.10:g.30070880C>T
ClinVar review status criteria provided, multiple submitters, no conflicts
Clinical Significance Pathogenic
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Variant clinical sources reported ClinGen:CA021327|OMIM:607379.0014
Gene symbol:Gene id. NF2:4771
Molecular consequence SO:0001587|nonsense, SO:0001619|non-coding transcript variant, SO:0001627|intron variant
Allele origin germline
dbSNP ID 74315504
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

MSeqDR View Variant at Gbrowse

Mitomap Mitochondrial Variant Phenotype Information:

None

Ensembl Variant Phenotype Information:

None