10-100524148-GAGA-G
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_005004.4(NDUFB8):c.469-222_469-220delTCT variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000357 in 1,569,516 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_005004.4 intron
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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFB8 | NM_005004.4 | c.469-222_469-220delTCT | intron_variant | Intron 4 of 4 | ENST00000299166.9 | NP_004995.1 | ||
NDUFB8 | NM_001284367.2 | c.469-12_469-10delTCT | intron_variant | Intron 4 of 4 | NP_001271296.1 | |||
NDUFB8 | NM_001284368.1 | c.376-222_376-220delTCT | intron_variant | Intron 4 of 4 | NP_001271297.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
NDUFB8 | ENST00000299166.9 | c.469-222_469-220delTCT | intron_variant | Intron 4 of 4 | 1 | NM_005004.4 | ENSP00000299166.4 | |||
ENSG00000255339 | ENST00000557395.5 | n.469-12_469-10delTCT | intron_variant | Intron 4 of 9 | 2 | ENSP00000456832.1 |
Frequencies
GnomAD3 genomes AF: 0.000205 AC: 31AN: 151514Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000269 AC: 5AN: 186196Hom.: 0 AF XY: 0.0000200 AC XY: 2AN XY: 100212
GnomAD4 exome AF: 0.0000176 AC: 25AN: 1417890Hom.: 0 AF XY: 0.0000142 AC XY: 10AN XY: 701804
GnomAD4 genome AF: 0.000204 AC: 31AN: 151626Hom.: 0 Cov.: 31 AF XY: 0.000270 AC XY: 20AN XY: 74066
ClinVar
Submissions by phenotype
NDUFB8-related disorder Benign:1
This variant is classified as likely 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