View genomic variant #0000001783

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

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

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Gene	Transcript ID	Transcript	Variant ID	Affects function	DNA change (cDNA)	Protein	GVS function	Position	Exon	PolyPhen	RNA change	SIFT
ACTN2	00003298	NM_001103.2	0000001783	+/+	c.26A>G	p.(Gln9Arg)	missense_variant	-	1/21	benign(0.001)	r.(?)	tolerated(0.61)
ACTN2	00003338	NM_001103.3	0000001783	+/+	c.26A>G	p.(Gln9Arg)	missense_variant	-	1/21	benign(0.001)	r.(?)	tolerated(0.61)

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ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession	RCV000019977; RCV000036908; RCV000172514; RCV000245795; RCV000461895; RCV000769743; RCV003224104; RCV003327363;
Chromosome	1:236849999..236849999
Allele frequencies from ExAC	0.00070
Allele frequencies from TGP	0.00060
ClinVar Allele ID	33352
Disease database name and identifier	MONDO:MONDO:0024573, MeSH:D024741, MedGen:C0949658, OMIM:PS192600, Orphanet:155|MONDO:MONDO:0012808, MedGen:C2677338, OMIM:612158, Orphanet:154|Human Phenotype Ontology:HP:0001638, MONDO:MONDO:0004994, MedGen:C0878544, Orphanet:167848|MONDO:MONDO:0032852, MedGen:C5231445, OMIM:618654|MONDO:MONDO:0032853, MedGen:C5203349, OMIM:618655|MedGen:CN230736|MedGen:CN169374|MedGen:C3661900|EFO:EFO 0000407, Human Phenotype Ontology:HP:0001644, Human Phenotype Ontology:HP:0001725, Human Phenotype Ontology:HP:0005159, Human Phenotype Ontology:HP:0200130, MONDO:MONDO:0005021, MeSH:D002311, MedGen:C0007193, Orphanet:217604
ClinVar preferred disease name	Primary familial hypertrophic cardiomyopathy|Dilated cardiomyopathy 1AA|Cardiomyopathy|Myopathy, congenital, with structured cores and z-line abnormalities|Myopathy, distal, 6, adult-onset, autosomal dominant|Cardiovascular phenotype|not specified|not provided|Primary dilated cardiomyopathy
HGVS variant names	NC 000001.10:g.236849999A>G
ClinVar review status	criteria provided, conflicting interpretations
Clinical Significance	Conflicting interpretations of pathogenicity
Conflicting clinical significance	Uncertain significance(3)|Likely benign(7)
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA090885|OMIM:102573.0001|UniProtKB:P35609#VAR 054628
Gene symbol:Gene id.	ACTN2:88
Molecular consequence	SO:0001583|missense variant, SO:0001623|5 prime UTR variant
Allele origin	germline
dbSNP ID	121434525
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