rs28365083
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_000777.5(CYP3A5):c.1193C>A(p.Thr398Asn) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0045 in 1,614,026 control chromosomes in the GnomAD database, including 23 homozygotes. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_000777.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
CYP3A5 | NM_000777.5 | c.1193C>A | p.Thr398Asn | missense_variant | 11/13 | ENST00000222982.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
CYP3A5 | ENST00000222982.8 | c.1193C>A | p.Thr398Asn | missense_variant | 11/13 | 1 | NM_000777.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00303 AC: 461AN: 152116Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00325 AC: 817AN: 251382Hom.: 3 AF XY: 0.00314 AC XY: 426AN XY: 135876
GnomAD4 exome AF: 0.00465 AC: 6798AN: 1461792Hom.: 21 Cov.: 31 AF XY: 0.00456 AC XY: 3313AN XY: 727214
GnomAD4 genome ? AF: 0.00303 AC: 461AN: 152234Hom.: 2 Cov.: 32 AF XY: 0.00274 AC XY: 204AN XY: 74434
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at