View genomic variant #0000000908

Variant on transcripts

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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.

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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	0000000908	+/+	c.1021C>T	p.(Arg341*)	stop_gained	-	11/16	-	r.(?)	-

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ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000003453; RCV000497720; RCV003278654;
Chromosome	22:30067836..30067836
ClinVar Allele ID	18331
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.30067836C>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:CA021277|OMIM:607379.0011
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	74315499
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV002007543;
Chromosome	22:30067837..30067837
ClinVar Allele ID	1438843
Disease database name and identifier	MONDO:MONDO:0007039, MedGen:C0027832, OMIM:101000, Orphanet:637
ClinVar preferred disease name	Neurofibromatosis, type 2
HGVS variant names	NC 000022.10:g.30067837del
ClinVar review status	criteria provided, single submitter
Clinical Significance	Pathogenic
Variant type	Deletion
Sequence Ontology for variant type	SO:0000159
Gene symbol:Gene id.	NF2:4771
Molecular consequence	SO:0001589|frameshift variant, SO:0001619|non-coding transcript variant, SO:0001627|intron variant
Allele origin	germline
dbSNP ID	2147071740
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