View genomic variant #0000016915

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.

Location: Location of variant at DNA level; note that the variant location can also be derived from the variant description.
All options:

• 5' gene flanking
• 5' UTR
• Exon
• Intron
• 3' UTR
• 3' gene flanking

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.

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

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

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

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

Splice distance: The distance to the nearest splice site.

SIFT: SIFT Annotation

9 entries on 1 page. Showing entries 1 - 9.

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Gene	Transcript ID	Transcript	Variant ID	Affects function	Location	Exon	DNA change (cDNA)	Protein	PolyPhen	GVS function	Splice distance	SIFT
DNM1L	00000107	NM_001278463.1	0000016915	./.	-	-	c.345_346del	p.(Glu116Lysfs*6)	-	-	-	-
DNM1L	00000103	NM_001278464.1	0000016915	./.	-	-	c.384_385del	p.(Glu129Lysfs*6)	-	-	-	-
DNM1L	00000104	NM_001278465.1	0000016915	./.	-	-	c.384_385del	p.(Glu129Lysfs*6)	-	-	-	-
DNM1L	00000105	NM_001278466.1	0000016915	./.	-	-	c.131+787_131+788del	p.(=)	-	-	-	-
DNM1L	00000109	NM_005690.4	0000016915	./.	-	-	c.345_346del	p.(Glu116Lysfs*6)	-	-	-	-
DNM1L	00000106	NM_012062.4	0000016915	./.	-	-	c.345_346del	p.(Glu116Lysfs*6)	-	-	-	-
DNM1L	00000108	NM_012063.3	0000016915	./.	-	-	c.345_346del	p.(Glu116Lysfs*6)	-	-	-	-
DNM1L	00000110	XM_005253282.1	0000016915	./.	-	-	c.384_385del	p.(Glu129Lysfs*6)	-	-	-	-
DNM1L	00000111	XM_005253283.1	0000016915	./.	-	-	c.-103_-102del	p.(=)	-	-	-	-

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ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000239652; RCV001854933;
Chromosome	12:32861134..32861135
ClinVar Allele ID	247686
Disease database name and identifier	MedGen:CN517202|MONDO:MONDO:0013726, MedGen:C3280660, OMIM:614388, Orphanet:330050
ClinVar preferred disease name	not provided|Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1
HGVS variant names	NC 000012.11:g.32861135 32861136del
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Pathogenic(1)|Uncertain significance(1)
Variant type	Deletion
Sequence Ontology for variant type	SO:0000159
Variant clinical sources reported	ClinGen:CA6507318|OMIM:603850.0005
Gene symbol:Gene id.	DNM1L:10059
Molecular consequence	SO:0001589|frameshift variant, SO:0001627|intron variant
Allele origin
dbSNP ID	879255687
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV003054433;
Chromosome	12:32861134..32861137
ClinVar Allele ID	2183339
Disease database name and identifier	MedGen:CN517202
ClinVar preferred disease name	not provided
HGVS variant names	NC 000012.11:g.32861134AGAA[1]
ClinVar review status	criteria provided, single submitter
Clinical Significance	Pathogenic
Variant type	Microsatellite
Sequence Ontology for variant type	SO:0000289
Gene symbol:Gene id.	DNM1L:10059
Molecular consequence	SO:0001589|frameshift variant, SO:0001627|intron variant
Allele origin	germline
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