rs121918134
Variant summary
Our verdict is Likely pathogenic. Variant got 8 ACMG points: 8P and 0B. PM2PM5PP3_Strong
The NM_199069.2(NDUFAF3):c.229G>A(p.Gly77Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. In-silico tool predicts a pathogenic outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G77R) has been classified as Pathogenic.
Frequency
Consequence
NM_199069.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_pathogenic. Variant got 8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NDUFAF3 | NM_199069.2 | c.229G>A | p.Gly77Ser | missense_variant | 2/5 | ENST00000326925.11 | |
NDUFAF3 | NM_199070.2 | c.58G>A | p.Gly20Ser | missense_variant | 2/5 | ||
NDUFAF3 | NM_199073.2 | c.58G>A | p.Gly20Ser | missense_variant | 2/5 | ||
NDUFAF3 | NM_199074.2 | c.58G>A | p.Gly20Ser | missense_variant | 2/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFAF3 | ENST00000326925.11 | c.229G>A | p.Gly77Ser | missense_variant | 2/5 | 1 | NM_199069.2 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000401 AC: 1AN: 249132Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135286
GnomAD4 exome Cov.: 32
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at