rs1801316
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 1P and 0B. PP3
The NM_004541.4(NDUFA1):c.94G>A(p.Gly32Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000909 in 1,210,300 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 2 hemizygotes in GnomAD. 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin ClinVar.
Frequency
Consequence
NM_004541.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NDUFA1 | NM_004541.4 | c.94G>A | p.Gly32Arg | missense_variant | 1/3 | ENST00000371437.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFA1 | ENST00000371437.5 | c.94G>A | p.Gly32Arg | missense_variant | 1/3 | 1 | NM_004541.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00000884 AC: 1AN: 113094Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 35230
GnomAD3 exomes AF: 0.00000546 AC: 1AN: 183191Hom.: 0 AF XY: 0.0000148 AC XY: 1AN XY: 67693
GnomAD4 exome AF: 0.00000911 AC: 10AN: 1097206Hom.: 0 Cov.: 31 AF XY: 0.00000552 AC XY: 2AN XY: 362586
GnomAD4 genome ? AF: 0.00000884 AC: 1AN: 113094Hom.: 0 Cov.: 24 AF XY: 0.00 AC XY: 0AN XY: 35230
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at