X-47142334-G-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001135998.3(NDUFB11):c.445C>A(p.Leu149Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000166 in 1,207,606 control chromosomes in the GnomAD database, with no homozygous occurrence. There are no hemizygote samples in GnomAD. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001135998.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000895 AC: 1AN: 111733Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33897
GnomAD4 exome AF: 9.13e-7 AC: 1AN: 1095873Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 361489
GnomAD4 genome AF: 0.00000895 AC: 1AN: 111733Hom.: 0 Cov.: 22 AF XY: 0.00 AC XY: 0AN XY: 33897
ClinVar
Submissions by phenotype
not provided Uncertain:1
In silico analysis supports that this missense variant does not alter protein structure/function; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at