View genomic variant #0000005167

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

2 entries on 1 page. Showing entries 1 - 2.

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Gene	Transcript ID	Transcript	Variant ID	Affects function	Location	Exon	DNA change (cDNA)	Protein	PolyPhen	GVS function	Splice distance	SIFT
ACADM	00000384	NM_000016.4	0000005167	./.	-	11/12	c.985A>G	p.(Lys329Glu)	benign(0.073)	missense_variant	-	tolerated(0.31)
ACADM	00000383	NM_001127328.1	0000005167	./.	-	11/12	c.997A>G	p.(Lys333Glu)	benign(0.164)	missense_variant	-	tolerated(0.31)

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ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000003769; RCV000077895; RCV001526621; RCV002227014; RCV002251863; RCV002274875; RCV002512722; RCV003430631;
Chromosome	1:76226846..76226846
Allele frequencies from ExAC	0.00332
Allele frequencies from TGP	0.00100
ClinVar Allele ID	18625
Disease database name and identifier	.|MeSH:D030342, MedGen:C0950123|MedGen:C3661900|MONDO:MONDO:0008721, MedGen:C0220710, OMIM:201450, Orphanet:42|Human Phenotype Ontology:HP:0003119, Human Phenotype Ontology:HP:0003611, MedGen:C4025650|.|Human Phenotype Ontology:HP:0008309, MedGen:C1860081|Human Phenotype Ontology:HP:0011097, MedGen:C1527366
ClinVar preferred disease name	ACADM-related condition|Inborn genetic diseases|not provided|Medium-chain acyl-coenzyme A dehydrogenase deficiency|Abnormal circulating lipid concentration|See cases|Medium chain dicarboxylic aciduria|Epileptic spasm
HGVS variant names	NC 000001.10:g.76226846A>G
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Pathogenic(32)|Likely pathogenic(2)|Uncertain significance(1)
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA252821|Genetic Testing Registry (GTR):GTR000167667|Genetic Testing Registry (GTR):GTR000327563|Genetic Testing Registry (GTR):GTR000330878|Genetic Testing Registry (GTR):GTR000500502|Genetic Testing Registry (GTR):GTR000556273|Genetic Testing Registry (GTR):GTR000568361|OMIM:607008.0001
Gene symbol:Gene id.	ACADM:34
Molecular consequence	SO:0001583|missense variant
Allele origin
dbSNP ID	77931234
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