2-201079273-C-T
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_002491.3(NDUFB3):c.140+251C>T variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0114 in 151,828 control chromosomes in the GnomAD database, including 18 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★).
Frequency
Consequence
NM_002491.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFB3 | NM_002491.3 | c.140+251C>T | intron_variant | Intron 2 of 2 | ENST00000237889.9 | NP_002482.1 | ||
NDUFB3 | NM_001257102.2 | c.140+251C>T | intron_variant | Intron 3 of 3 | NP_001244031.1 | |||
NDUFB3 | XM_011511230.4 | c.140+251C>T | intron_variant | Intron 3 of 3 | XP_011509532.1 | |||
NDUFB3 | XM_047444488.1 | c.140+251C>T | intron_variant | Intron 3 of 3 | XP_047300444.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0114 AC: 1728AN: 151712Hom.: 18 Cov.: 32
GnomAD4 genome AF: 0.0114 AC: 1729AN: 151828Hom.: 18 Cov.: 32 AF XY: 0.0112 AC XY: 828AN XY: 74176
ClinVar
Submissions by phenotype
not provided Benign:1
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at