View genomic variant #0000018004

Chromosome	17
Allele	Unknown
Affects function (as reported)	Probably does not affect function
Affects function (by curator)	Probably does not affect function
Type	-
DNA change (genomic) (Relative to hg19 / GRCh37)	g.7123838C>T
Published as	-
GERP	-
Segregation	-
DB-ID	ACADVL_000025 See all 2 reported entries
MSCV	MSCV_0000675
dbSNP ID	-
Frequency	-
Sources	; clinvar;
Reference	-
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	0.03383 View details
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.

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

4 entries on 1 page. Showing entries 1 - 4.

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Gene	Transcript ID	Transcript	Variant ID	Affects function	Location	Exon	DNA change (cDNA)	Protein	PolyPhen	GVS function	Splice distance	SIFT
ACADVL	00000390	NM_000018.3	0000018004	./.	-	-	c.194C>T	p.(Pro65Leu)	-	-	-	-
ACADVL	00000391	NM_001033859.2	0000018004	./.	-	-	c.139-85C>T	p.(=)	-	-	-	-
ACADVL	00000388	NM_001270447.1	0000018004	./.	-	-	c.263C>T	p.(Pro88Leu)	-	-	-	-
ACADVL	00000389	NM_001270448.1	0000018004	./.	-	-	c.-35C>T	p.(=)	-	-	-	-

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ClinVar @ MSeqDR
RCVaccession	RCV000020076; RCV000077913; RCV000420053;
Chromosome	17:7123838..7123838
Allele frequencies from ExAC	0.01048
Allele frequencies from TGP	0.03914
ClinVar Allele ID	16670
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.7123838C>T
ClinVar review status	reviewed by expert panel
Clinical Significance	Benign
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA285292\|OMIM:609575.0011\|UniProtKB:P49748#VAR 048176
Gene symbol:Gene id.	ACADVL:37
Molecular consequence	SO:0001583\|missense variant, SO:0001623\|5 prime UTR variant, SO:0001627\|intron variant
Allele origin	germline
dbSNP ID	28934585
For included Variant: Tag-value pairs of disease database name and identifier, e.g. OMIM:NNNNNN	MONDO:MONDO:0008723, MedGen:C3887523, OMIM:201475, Orphanet:26793
For included Variant : ClinVar preferred disease name for the concept specified by disease identifiers in CLNDISDB	Very long chain acyl-CoA dehydrogenase deficiency
Clinical significance for a haplotype or genotype that includes this variant. Reported as pairs of VariationID:clinical significance.	441528:Pathogenic
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV003036126;
Chromosome 17:7123839..7123862
ClinVar Allele ID 2185884
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.7123844 7123867del
ClinVar review status criteria provided, single submitter
Clinical Significance Likely pathogenic
Variant type Deletion
Sequence Ontology for variant type SO:0000159
Gene symbol:Gene id. ACADVL:37
Molecular consequence SO:0001575|splice donor 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