View genomic variant #0000001436

Chromosome	M
Allele	Unknown
Affects function (as reported)	Probably affects function
Affects function (by curator)	Probably affects function
Type	ins
DNA change (genomic) (Relative to hg19 / GRCh37)	m.8617_8618insT
Published as	-
GERP	-
Segregation	-
DB-ID	chrM_000053 See all 2 reported entries
MSCV	MSCV_0001436
dbSNP ID	rs387906423
Frequency	-
Sources	; clinVar;
Reference	19124644
Variant remarks	-
Genetic origin	-
Variant_disease	-
Average frequency (large NGS studies)	Variant not found in online data sets
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

1 entry on 1 page. Showing entry 1.

Legend

Gene	Transcript ID	Transcript	Variant ID	Affects function	Location	Exon	DNA change (cDNA)	Protein	PolyPhen	GVS function	Splice distance	SIFT
MT-ATP6	00001337	MT-ATP6-201	0000001436	+?/+?	-	.	c.92T>C	p.I31T	-	-	-	-

Legend

ClinVar @ MSeqDR
RCVaccession	RCV000224510; RCV000854261;
Chromosome	M:8616..8616
ClinVar Allele ID	237307
Disease database name and identifier	MedGen:CN517202\|MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506
ClinVar preferred disease name	not provided\|Leigh syndrome
HGVS variant names	NC 012920.1:m.8616G>T
ClinVar review status	criteria provided, multiple submitters, no conflicts
Clinical Significance	Benign/Likely benign
Variant type	single nucleotide variant
Sequence Ontology for variant type	SO:0001483
Variant clinical sources reported	ClinGen:CA10581379
Gene symbol:Gene id.	MT-ATP6:4508
Allele origin	germline
dbSNP ID	41427749
Variant Flags	:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000010283;
Chromosome M:8617..8618
ClinVar Allele ID 24687
Disease database name and identifier MONDO:MONDO:0010794, MedGen:C1328349, OMIM:551500, Orphanet:644
ClinVar preferred disease name NARP syndrome
HGVS variant names NC 012920.1:m.8618dup
ClinVar review status no assertion criteria provided
Clinical Significance Pathogenic
Variant type Duplication
Sequence Ontology for variant type SO:1000035
Variant clinical sources reported ClinGen:CA254849|OMIM:516060.0009
Gene symbol:Gene id. MT-ATP6:4508
Allele origin germline
dbSNP ID 387906423
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000854262;
Chromosome M:8617..8617
ClinVar Allele ID 681462
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506
ClinVar preferred disease name Leigh syndrome
HGVS variant names NC 012920.1:m.8617A>G
ClinVar review status criteria provided, single submitter
Clinical Significance Likely benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. MT-ATP6:4508
Allele origin germline
dbSNP ID 1603221641
Variant Flags
:

ClinVar @ MSeqDR as full content XML tree

ClinVar @ MSeqDR
RCVaccession RCV000854263;
Chromosome M:8618..8618
ClinVar Allele ID 681463
Disease database name and identifier MONDO:MONDO:0009723, MedGen:C0023264, OMIM:256000, Orphanet:506
ClinVar preferred disease name Leigh syndrome
HGVS variant names NC 012920.1:m.8618T>C
ClinVar review status criteria provided, single submitter
Clinical Significance Benign
Variant type single nucleotide variant
Sequence Ontology for variant type SO:0001483
Gene symbol:Gene id. MT-ATP6:4508
Allele origin germline
dbSNP ID 28358885
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