rs1556424448
Positions:
Variant summary
Our verdict is Uncertain significance. Variant got 5 ACMG points: 5P and 0B. PM1PM2PP3
The ENST00000361681.2(MT-ND6):āc.197T>Cā(p.Val66Ala) variant causes a missense change. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Mitomap GenBank:
š 0.0 ( AC: 2 )
Consequence
MT-ND6
ENST00000361681.2 missense
ENST00000361681.2 missense
Scores
Apogee2
Pathogenic
Clinical Significance
No linked disesase in Mitomap
Conservation
PhyloP100: 5.72
Genes affected
MT-ND6 (HGNC:7462): (mitochondrially encoded NADH dehydrogenase 6) Enables NADH dehydrogenase (ubiquinone) activity. Involved in mitochondrial electron transport, NADH to ubiquinone and mitochondrial respiratory chain complex I assembly. Predicted to be located in mitochondrial inner membrane. Implicated in Leber hereditary optic neuropathy; Leigh disease; and spinal muscular atrophy with lower extremity predominante 2B. [provided by Alliance of Genome Resources, Apr 2022]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 5 ACMG points.
PM1
?
In a transmembrane_region Helical (size 20) in uniprot entity NU6M_HUMAN there are 5 pathogenic changes around while only 1 benign (83%) in ENST00000361681.2
PM2
?
Very low frequency in mitomap database: 0.0
PP3
?
Apogee2 supports a deletorius effect, 0.75750566 >= 0.5 .
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
MT-ND6 | ENST00000361681.2 | c.197T>C | p.Val66Ala | missense_variant | 1/1 | P1 |
Frequencies
GnomAD4 exome Cov.: 0
GnomAD4 exome
Cov.:
0
We have no GnomAD4 genomes data on this position. Probably position not covered by the project.
Mitomap GenBank
AF:
AC:
2
Gnomad homoplasmic
AF:
AC:
0
AN:
56434
Gnomad heteroplasmic
AF:
AC:
1
AN:
56434
Mitomap
No disease associated.
ClinVar
Significance: Uncertain significance
Submissions summary: Uncertain:1
Revision: criteria provided, single submitter
LINK: link
Submissions by phenotype
Headache;C0030554:Paresthesia;C0037763:Muscle spasm;C0042571:Vertigo;C0235095:Constriction of peripheral visual field;C0338656:Cognitive impairment;C4021085:Abnormal brain morphology Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Centre for Mendelian Genomics, University Medical Centre Ljubljana | Jan 01, 2017 | - - |
Computational scores
Source:
Name
Calibrated prediction
Score
Prediction
Apogee2
Pathogenic
Hmtvar
Pathogenic
AlphaMissense
Pathogenic
BayesDel_addAF
Benign
T
DEOGEN2
Pathogenic
D
LIST_S2
Benign
T
MutationAssessor
Pathogenic
H
MutationTaster
Benign
D
PROVEAN
Uncertain
D
Sift
Pathogenic
D
Sift4G
Pathogenic
D
GERP RS
Varity_R
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at