chr5-140647265-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_002488.5(NDUFA2):c.199G>T(p.Ala67Ser) variant causes a missense change. The variant allele was found at a frequency of 0.000000715 in 1,399,576 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★). Synonymous variant affecting the same amino acid position (i.e. A67A) has been classified as Likely benign.
Frequency
Consequence
NM_002488.5 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/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
NDUFA2 | NM_002488.5 | c.199G>T | p.Ala67Ser | missense_variant | 2/3 | ENST00000252102.9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
NDUFA2 | ENST00000252102.9 | c.199G>T | p.Ala67Ser | missense_variant | 2/3 | 1 | NM_002488.5 | P1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 7.15e-7 AC: 1AN: 1399576Hom.: 0 Cov.: 30 AF XY: 0.00000145 AC XY: 1AN XY: 688902
GnomAD4 genome Cov.: 32
ClinVar
Submissions by phenotype
Mitochondrial complex 1 deficiency, nuclear type 13 Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Revvity Omics, Revvity | Jun 11, 2021 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at