10-94942309-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_000771.4(CYP2C9):c.449G>A(p.Arg150His) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0033 in 1,613,840 control chromosomes in the GnomAD database, including 155 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign,drug response (★★). Another nucleotide change resulting in the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_000771.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0158 AC: 2405AN: 152126Hom.: 80 Cov.: 32
GnomAD3 exomes AF: 0.00440 AC: 1106AN: 251202Hom.: 26 AF XY: 0.00328 AC XY: 445AN XY: 135748
GnomAD4 exome AF: 0.00199 AC: 2913AN: 1461596Hom.: 74 Cov.: 32 AF XY: 0.00171 AC XY: 1244AN XY: 727106
GnomAD4 genome AF: 0.0159 AC: 2415AN: 152244Hom.: 81 Cov.: 32 AF XY: 0.0154 AC XY: 1146AN XY: 74442
ClinVar
Submissions by phenotype
not provided Benign:2
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This variant is associated with the following publications: (PMID: 25087612, 24118918, 22378156, 23376925, 23752738, 25142737, 25832633) -
Piroxicam response Other:1
Individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) have reduced clearance of piroxicam. Because the standard recommended dose of piroxicam may cause abnormally high plasma levels, a dose reduction should be considered for these individuals. Poor metabolizer
Lesinurad response Other:1
Lesinurad should be used with caution in individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) because of increased exposure and an increased risk of side effects. Poor metabolizer
Flurbiprofen response Other:1
The dose of flurbiprofen should be reduced in individuals with 2 decreased function alleles (CYP2C9 poor metabolizers) to avoid abnormally high plasma levels due to reduced metabolic clearance. Poor metabolizer
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at