2-201078894-ACATGGACATGAG-ACATGGACATGAGCATGGACATGAG
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP3
The NM_002491.3(NDUFB3):c.22_33dupGAGCATGGACAT(p.Glu8_His11dup) variant causes a conservative inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000621 in 1,609,882 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Genomes: 𝑓 0.0000066 ( 0 hom., cov: 32)
Exomes 𝑓: 0.0000062 ( 0 hom. )
Consequence
NDUFB3
NM_002491.3 conservative_inframe_insertion
NM_002491.3 conservative_inframe_insertion
Scores
Not classified
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: 1.36
Genes affected
NDUFB3 (HGNC:7698): (NADH:ubiquinone oxidoreductase subunit B3) This gene encodes an accessory subunit of the mitochondrial membrane respiratory chain NADH dehydrogenase (Complex I) which is the first enzyme in the electron transport chain of mitochondria. This protein localizes to the inner membrane of the mitochondrion as a single-pass membrane protein. Mutations in this gene contribute to mitochondrial complex 1 deficiency. Alternative splicing results in multiple transcript variants encoding the same protein. Humans have multiple pseudogenes of this gene. [provided by RefSeq, Mar 2012]
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ACMG classification
Classification made for transcript
Verdict is Uncertain_significance. Variant got 1 ACMG points.
PM2
Very rare variant in population databases, with high coverage;
BP3
Nonframeshift variant in repetitive region in NM_002491.3
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFB3 | NM_002491.3 | c.22_33dupGAGCATGGACAT | p.Glu8_His11dup | conservative_inframe_insertion | Exon 2 of 3 | ENST00000237889.9 | NP_002482.1 | |
NDUFB3 | NM_001257102.2 | c.22_33dupGAGCATGGACAT | p.Glu8_His11dup | conservative_inframe_insertion | Exon 3 of 4 | NP_001244031.1 | ||
NDUFB3 | XM_011511230.4 | c.22_33dupGAGCATGGACAT | p.Glu8_His11dup | conservative_inframe_insertion | Exon 3 of 4 | XP_011509532.1 | ||
NDUFB3 | XM_047444488.1 | c.22_33dupGAGCATGGACAT | p.Glu8_His11dup | conservative_inframe_insertion | Exon 3 of 4 | XP_047300444.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 32
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GnomAD3 exomes AF: 0.00000804 AC: 2AN: 248772Hom.: 0 AF XY: 0.0000149 AC XY: 2AN XY: 134486
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GnomAD4 exome AF: 0.00000617 AC: 9AN: 1457668Hom.: 0 Cov.: 30 AF XY: 0.0000110 AC XY: 8AN XY: 725220
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GnomAD4 genome AF: 0.00000657 AC: 1AN: 152214Hom.: 0 Cov.: 32 AF XY: 0.0000134 AC XY: 1AN XY: 74362
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Find out detailed SpliceAI scores and Pangolin per-transcript scores at