rs371563487
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 4P and 2B. PM1PM2BP4_Moderate
The NM_005004.4(NDUFB8):c.442G>T(p.Asp148Tyr) variant causes a missense change. The variant allele was found at a frequency of 0.000000686 in 1,457,630 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_005004.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFB8 | NM_005004.4 | c.442G>T | p.Asp148Tyr | missense_variant | Exon 4 of 5 | ENST00000299166.9 | NP_004995.1 | |
NDUFB8 | NM_001284367.2 | c.442G>T | p.Asp148Tyr | missense_variant | Exon 4 of 5 | NP_001271296.1 | ||
NDUFB8 | NM_001284368.1 | c.349G>T | p.Asp117Tyr | missense_variant | Exon 4 of 5 | NP_001271297.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NDUFB8 | ENST00000299166.9 | c.442G>T | p.Asp148Tyr | missense_variant | Exon 4 of 5 | 1 | NM_005004.4 | ENSP00000299166.4 | ||
ENSG00000255339 | ENST00000557395.5 | n.442G>T | non_coding_transcript_exon_variant | Exon 4 of 10 | 2 | ENSP00000456832.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000404 AC: 1AN: 247242Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 133882
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1457630Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 725268
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at