View genomic variant #0000017989

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

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.

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.

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.

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

Splice distance: The distance to the nearest splice site.

SIFT: SIFT Annotation

5 entries on 1 page. Showing entries 1 - 5.

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Gene	Transcript ID	Transcript	Variant ID	Affects function	Location	DNA change (cDNA)	Exon	Protein	GVS function	Position	PolyPhen	RNA change	Splice distance	SIFT
ACADVL	00000390	NM_000018.3	0000017989	./.	-	c.-64_-63insGGGCGTGCAGGACGC	-	p.(=)	-	-	-	r.(=)	-	-
ACADVL	00000391	NM_001033859.2	0000017989	./.	-	c.-64_-63insGGGCGTGCAGGACGC	-	p.(=)	-	-	-	r.(=)	-	-
ACADVL	00000388	NM_001270447.1	0000017989	./.	-	c.132-201_132-200insGGGCGTGCAGGACGC	-	p.(=)	-	-	-	r.(=)	-	-
ACADVL	00000389	NM_001270448.1	0000017989	./.	-	c.-367_-366insGGGCGTGCAGGACGC	-	p.(=)	-	-	-	r.(=)	-	-
DLG4	00003308	NM_001365.3	0000017989	./.	-	c.-1073_-1072insGCGTCCTGCACGCCC	-	p.(=)	-	-	-	r.(=)	-	-

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ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000152731; RCV000335414; RCV001610461;
Chromosome	17:7123240..7123241
Allele frequencies from ESP	0.45172
Allele frequencies from TGP	0.46785
ClinVar Allele ID	177462
Disease database name and identifier	MedGen:CN169374|MedGen:C3661900|MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name	not specified|not provided|Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names	NC 000017.10:g.7123241 7123255dup
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign
Variant type	Duplication
Sequence Ontology for variant type	SO:1000035
Variant clinical sources reported	ClinGen:CA179707
Gene symbol:Gene id.	DLG4:1742|ACADVL:37
Molecular consequence	SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin	germline
dbSNP ID	6145976
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000671629;
Chromosome	17:7123240..7123241
ClinVar Allele ID	549012
Disease database name and identifier	MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name	Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names	NC 000017.10:g.7123255 7123256insGGGCACGCGGGCGTGCAGGACGC
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Insertion
Sequence Ontology for variant type	SO:0000667
Gene symbol:Gene id.	DLG4:1742|ACADVL:37
Molecular consequence	SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin	unknown
dbSNP ID	6145976
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000674467;
Chromosome	17:7123240..7123241
ClinVar Allele ID	548608
Disease database name and identifier	MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name	Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names	NC 000017.10:g.7123254 7123255insTGGGCGTGCAGGACGCGGGCGTGCAGGACG
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Insertion
Sequence Ontology for variant type	SO:0000667
Gene symbol:Gene id.	DLG4:1742|ACADVL:37
Molecular consequence	SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin	unknown
dbSNP ID	1555527393
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000670373;
Chromosome	17:7123240..7123241
ClinVar Allele ID	548229
Disease database name and identifier	MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name	Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names	NC 000017.10:g.7123252 7123253insTGCGGGCGTGCAGGA
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Insertion
Sequence Ontology for variant type	SO:0000667
Gene symbol:Gene id.	DLG4:1742|ACADVL:37
Molecular consequence	SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin	unknown
dbSNP ID	1555527401
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000667551;
Chromosome	17:7123241..7123242
ClinVar Allele ID	548609
Disease database name and identifier	MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
ClinVar preferred disease name	Very long chain acyl-CoA dehydrogenase deficiency
HGVS variant names	NC 000017.10:g.7123255 7123256insGGGCGTGCAGGACGCCGGCGTGCAGGACGC
ClinVar review status	criteria provided, single submitter
Clinical Significance	Uncertain significance
Variant type	Insertion
Sequence Ontology for variant type	SO:0000667
Gene symbol:Gene id.	DLG4:1742|ACADVL:37
Molecular consequence	SO:0001619|non-coding transcript variant, SO:0001623|5 prime UTR variant, SO:0001627|intron variant
Allele origin	unknown
dbSNP ID	753389263
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