17-81241127-C-T
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP6BS1BS2
The NM_001353402.1(NDUFAF8):c.340C>T(p.Arg114*) variant causes a stop gained change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00223 in 1,450,946 control chromosomes in the GnomAD database, including 36 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_001353402.1 stop_gained
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFAF8 | NM_001086521.2 | c.*111C>T | 3_prime_UTR_variant | Exon 3 of 3 | ENST00000431388.3 | NP_001079990.1 | ||
NDUFAF8 | NM_001353402.1 | c.340C>T | p.Arg114* | stop_gained | Exon 3 of 3 | NP_001340331.1 | ||
NDUFAF8 | NM_001353403.1 | c.178C>T | p.Arg60* | stop_gained | Exon 3 of 3 | NP_001340332.1 | ||
NDUFAF8 | NR_148426.1 | n.667C>T | non_coding_transcript_exon_variant | Exon 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00465 AC: 707AN: 152082Hom.: 10 Cov.: 32
GnomAD3 exomes AF: 0.00670 AC: 774AN: 115516Hom.: 9 AF XY: 0.00651 AC XY: 404AN XY: 62090
GnomAD4 exome AF: 0.00195 AC: 2527AN: 1298746Hom.: 26 Cov.: 30 AF XY: 0.00198 AC XY: 1256AN XY: 633680
GnomAD4 genome AF: 0.00467 AC: 711AN: 152200Hom.: 10 Cov.: 32 AF XY: 0.00511 AC XY: 380AN XY: 74422
ClinVar
Submissions by phenotype
NDUFAF8-related disorder Benign:1
This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at