10-100526438-C-G
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM1PM2
The NM_005004.4(NDUFB8):āc.429G>Cā(p.Met143Ile) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000496 in 1,611,958 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (ā ).
Frequency
Consequence
NM_005004.4 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFB8 | NM_005004.4 | c.429G>C | p.Met143Ile | missense_variant | Exon 4 of 5 | ENST00000299166.9 | NP_004995.1 | |
NDUFB8 | NM_001284367.2 | c.429G>C | p.Met143Ile | missense_variant | Exon 4 of 5 | NP_001271296.1 | ||
NDUFB8 | NM_001284368.1 | c.336G>C | p.Met112Ile | 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.429G>C | p.Met143Ile | missense_variant | Exon 4 of 5 | 1 | NM_005004.4 | ENSP00000299166.4 | ||
ENSG00000255339 | ENST00000557395.5 | n.429G>C | non_coding_transcript_exon_variant | Exon 4 of 10 | 2 | ENSP00000456832.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000160 AC: 4AN: 249302Hom.: 0 AF XY: 0.00000741 AC XY: 1AN XY: 134868
GnomAD4 exome AF: 0.00000480 AC: 7AN: 1459754Hom.: 0 Cov.: 30 AF XY: 0.00000138 AC XY: 1AN XY: 726244
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74336
ClinVar
Submissions by phenotype
Inborn genetic diseases Uncertain:1
The c.429G>C (p.M143I) alteration is located in exon 4 (coding exon 4) of the NDUFB8 gene. This alteration results from a G to C substitution at nucleotide position 429, causing the methionine (M) at amino acid position 143 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at