2-201078902-A-C
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_002491.3(NDUFB3):āc.20A>Cā(p.His7Pro) variant causes a missense change. The variant allele was found at a frequency of 0.00000657 in 152,216 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_002491.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFB3 | NM_002491.3 | c.20A>C | p.His7Pro | missense_variant | Exon 2 of 3 | ENST00000237889.9 | NP_002482.1 | |
NDUFB3 | NM_001257102.2 | c.20A>C | p.His7Pro | missense_variant | Exon 3 of 4 | NP_001244031.1 | ||
NDUFB3 | XM_011511230.4 | c.20A>C | p.His7Pro | missense_variant | Exon 3 of 4 | XP_011509532.1 | ||
NDUFB3 | XM_047444488.1 | c.20A>C | p.His7Pro | missense_variant | Exon 3 of 4 | XP_047300444.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 32
GnomAD4 exome Cov.: 30
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152216Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74362
ClinVar
Submissions by phenotype
not provided Uncertain:1
Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This sequence change replaces histidine, which is basic and polar, with proline, which is neutral and non-polar, at codon 7 of the NDUFB3 protein (p.His7Pro). This variant is present in population databases (rs778982161, gnomAD no frequency). This variant has not been reported in the literature in individuals affected with NDUFB3-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at