2-201072375-A-G
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 2P and 6B. PM2BP4_StrongBP6_Moderate
The NM_002491.3(NDUFB3):c.-3+316A>G variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00088 in 152,326 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_002491.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
NDUFB3 | NM_002491.3 | c.-3+316A>G | intron_variant | Intron 1 of 2 | ENST00000237889.9 | NP_002482.1 | ||
NDUFB3 | XM_047444488.1 | c.-781A>G | 5_prime_UTR_variant | Exon 2 of 4 | XP_047300444.1 | |||
NDUFB3 | NM_001257102.2 | c.-3+14A>G | intron_variant | Intron 2 of 3 | NP_001244031.1 | |||
NDUFB3 | XM_011511230.4 | c.-3+14A>G | intron_variant | Intron 2 of 3 | XP_011509532.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000874 AC: 133AN: 152208Hom.: 0 Cov.: 32
GnomAD4 exome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 2Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 2
GnomAD4 genome AF: 0.000880 AC: 134AN: 152326Hom.: 0 Cov.: 32 AF XY: 0.00111 AC XY: 83AN XY: 74488
ClinVar
Submissions by phenotype
not specified 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