3-42874772-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 4 ACMG points: 4P and 0B. PM2PP3_Moderate
The NM_004391.3(CYP8B1):c.1045C>T(p.Arg349Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000052 in 1,614,054 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_004391.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000329 AC: 5AN: 152070Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000112 AC: 28AN: 251076Hom.: 0 AF XY: 0.000140 AC XY: 19AN XY: 135740
GnomAD4 exome AF: 0.0000540 AC: 79AN: 1461866Hom.: 0 Cov.: 32 AF XY: 0.0000756 AC XY: 55AN XY: 727234
GnomAD4 genome AF: 0.0000329 AC: 5AN: 152188Hom.: 0 Cov.: 32 AF XY: 0.0000403 AC XY: 3AN XY: 74408
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1045C>T (p.R349W) alteration is located in exon 1 (coding exon 1) of the CYP8B1 gene. This alteration results from a C to T substitution at nucleotide position 1045, causing the arginine (R) at amino acid position 349 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at