chr19-40692025-A-G
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_024876.4(COQ8B):c.*10T>C variant causes a 3 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00223 in 1,589,246 control chromosomes in the GnomAD database, including 46 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (★★).
Frequency
Consequence
NM_024876.4 3_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
COQ8B | NM_024876.4 | c.*10T>C | 3_prime_UTR_variant | Exon 15 of 15 | ENST00000324464.8 | NP_079152.3 | ||
COQ8B | NM_001142555.3 | c.*10T>C | 3_prime_UTR_variant | Exon 14 of 14 | NP_001136027.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00901 AC: 1370AN: 152078Hom.: 18 Cov.: 31
GnomAD3 exomes AF: 0.00329 AC: 699AN: 212696Hom.: 11 AF XY: 0.00275 AC XY: 317AN XY: 115120
GnomAD4 exome AF: 0.00151 AC: 2164AN: 1437050Hom.: 28 Cov.: 31 AF XY: 0.00138 AC XY: 983AN XY: 712550
GnomAD4 genome AF: 0.00902 AC: 1373AN: 152196Hom.: 18 Cov.: 31 AF XY: 0.00876 AC XY: 652AN XY: 74402
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. -
Nephrotic syndrome, type 9 Benign:1
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Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at