MSeqDR Quick-Mitome Interpretation Report Central Portal

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Examples HGVS_g Variant: 3:g.49137039T>C, Gene: TMCO1, STAT1, Region: 2:191859900..191860000 Sample_UID: Demo0001.trio.vcf, Phenotype: Retinopathy,

MSeqDR Quick-Mitome Interpretation Report

Dataset Summary and Annotation

Variant Summary Report for 3:g.49137039T>C
Annotations in MSeqDR pipeline, Exomiser, HPO, ClinVar, VEP, and AF from multiple sources or :

This variant/gene/region 3:g.49137039T>C is not found in Our exome data set!

All Exomes matching this variant/gene (limit to 5,000 rows)

This variant/gene/region 3:g.49137039T>C is not found in filtered exome data!

CADD Annotation This variant/gene/region 3:g.49137039T>C is not found in internal exome CADD annotation, or it is not annotated if an indel. CADD is not shown when search by Our UID either.

ClinVar Annotation

Sample	Pos	Ref	Alt	HGVS	Best_Rank	MAX(t1.EXOMISER GENE_COMBINED_SCORE)	AVG(t1.EXOMISER GENE_COMBINED_SCORE)	MAX( t1.EXOMISER VARIANT_SCORE)	MAX(t1.EXOMISER GENE_PHENO_SCORE)	MAX(t1.EXOMISER GENE_VARIANT_SCORE)	RANKS	AlleleID	Variation_Type	Variation_Name	GeneID	GeneSymbol	HGNC_ID	ClinicalSignificance	ClinSigSimple	LastEvaluated	dbSNP	dbVar_nsv	RCVaccession	PhenotypeIDs	PhenotypeList	Origin	OriginSimple	Assembly	ChromosomeAccession	Chromosome	Start	Stop	ReferenceAllele	AlternateAllele	Cytogenetic	ReviewStatus	NumberSubmitters	Guidelines	TestedInGTR	OtherIDs	SubmitterCategories	VariantID	PositionVCF	ReferenceAlleleVCF	AlternateAlleleVCF	HGVS_g	HGVS_c	HGVS_p	Diseases	HG	Disease_hgmd	NucleotideExpression	ClinicalSignificance_brief	CPRA	Position_Diff_Exome_vs_ClinVar
												590051	single nucleotide variant	NM_005051.3(QARS1):c.1430A>G (p.Tyr477Cys)	5859	QARS1	HGNC:9751	Conflicting interpretations of pathogenicity	1	Aug 24, 2021	rs1172486173	-	RCV000735296\|RCV002535425	11 conditions\|MONDO:MONDO:0014335,MedGen:C4014239,OMIM:615760,Orphanet:404437	11 conditions\|Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome	germline	germline	GRCh37	NC_000003.11	3	49137039	49137039	na	na	3p21.31	criteria provided, conflicting interpretations	2	-	N	-	2	598953	49137039	T	C	NC_000003.11:g.49137039T>C						NC_000003.11:g.49137039T>C	Conflicting interpretations	chr3:49137039:T:C

* Default showing 10 rows. Click any table header to view more data, and sort by that colum

HGMD Annotation This variant/gene/region 3:g.49137039T>C is not found in HGMD, or you have no acess to HGMD data !

Done with real-time and pre-computed variant annotation based on GRCh37 at 2023-05-28 15:39:36

Additional annotation using MSeqDR tool:

This variant is real-time annotated by MSeqDR OneStopVariant Tool as below: