10-100523885-G-A
Variant summary
Our verdict is Benign. Variant got -19 ACMG points: 0P and 19B. BP4_ModerateBP6_Very_StrongBP7BS1BS2
The NM_005004.4(NDUFB8):c.513C>T(p.Gly171Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000925 in 1,614,106 control chromosomes in the GnomAD database, including 15 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_005004.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -19 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFB8 | NM_005004.4 | c.513C>T | p.Gly171Gly | synonymous_variant | Exon 5 of 5 | ENST00000299166.9 | NP_004995.1 | |
NDUFB8 | NM_001284368.1 | c.420C>T | p.Gly140Gly | synonymous_variant | Exon 5 of 5 | NP_001271297.1 | ||
NDUFB8 | NM_001284367.2 | c.*204C>T | 3_prime_UTR_variant | Exon 5 of 5 | NP_001271296.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00483 AC: 734AN: 152102Hom.: 6 Cov.: 32
GnomAD3 exomes AF: 0.00126 AC: 316AN: 251482Hom.: 3 AF XY: 0.000839 AC XY: 114AN XY: 135916
GnomAD4 exome AF: 0.000519 AC: 759AN: 1461886Hom.: 9 Cov.: 32 AF XY: 0.000440 AC XY: 320AN XY: 727242
GnomAD4 genome AF: 0.00482 AC: 734AN: 152220Hom.: 6 Cov.: 32 AF XY: 0.00458 AC XY: 341AN XY: 74438
ClinVar
Submissions by phenotype
not provided Benign:2
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NDUFB8-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