X-47142352-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 3 ACMG points: 3P and 0B. PM2PP3
The NM_001135998.3(NDUFB11):c.427G>C(p.Asp143His) variant causes a missense change. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. 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 3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 23
GnomAD3 exomes AF: 0.00000555 AC: 1AN: 180153Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 64795
GnomAD4 exome Cov.: 31
GnomAD4 genome Cov.: 23
ClinVar
Submissions by phenotype
NDUFB11-related disorders Uncertain:1
The NDUFB11 c.457G>C variant is predicted to result in the amino acid substitution p.Asp153His. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0077% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/X-47001751-C-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at