8-96235241-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBA1
The NM_006294.5(UQCRB):c.19+271T>C variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.491 in 590,358 control chromosomes in the GnomAD database, including 75,210 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★).
Frequency
Consequence
NM_006294.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.554 AC: 84144AN: 151900Hom.: 25469 Cov.: 32
GnomAD4 exome AF: 0.468 AC: 205327AN: 438340Hom.: 49690 Cov.: 4 AF XY: 0.469 AC XY: 109082AN XY: 232750
GnomAD4 genome AF: 0.554 AC: 84247AN: 152018Hom.: 25520 Cov.: 32 AF XY: 0.548 AC XY: 40677AN XY: 74282
ClinVar
Submissions by phenotype
not provided Benign:2
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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