NM_001135998.3:c.338+22G>A
Variant summary
Our verdict is Benign. Variant got -16 ACMG points: 0P and 16B. BP4_StrongBP6_Very_StrongBS2
The NM_001135998.3(NDUFB11):c.338+22G>A variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00021 in 1,209,141 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 113 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_001135998.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -16 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000125 AC: 14AN: 111983Hom.: 0 Cov.: 23 AF XY: 0.000234 AC XY: 8AN XY: 34143
GnomAD3 exomes AF: 0.000342 AC: 62AN: 181189Hom.: 0 AF XY: 0.000395 AC XY: 26AN XY: 65843
GnomAD4 exome AF: 0.000219 AC: 240AN: 1097105Hom.: 0 Cov.: 31 AF XY: 0.000290 AC XY: 105AN XY: 362539
GnomAD4 genome AF: 0.000125 AC: 14AN: 112036Hom.: 0 Cov.: 23 AF XY: 0.000234 AC XY: 8AN XY: 34206
ClinVar
Submissions by phenotype
not provided Benign:3
NDUFB11: BP4, BP7, BS2 -
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at