rs4986910
Variant summary
Our verdict is Benign. Variant got -9 ACMG points: 0P and 9B. BP4_StrongBP6BS2
The NM_017460.6(CYP3A4):āc.1334T>Cā(p.Met445Thr) variant causes a missense change. The variant allele was found at a frequency of 0.00623 in 1,613,728 control chromosomes in the GnomAD database, including 47 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in Lovd as Likely benign (no stars). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_017460.6 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -9 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
CYP3A4 | NM_017460.6 | c.1334T>C | p.Met445Thr | missense_variant | 12/13 | ENST00000651514.1 | NP_059488.2 | |
CYP3A4 | NM_001202855.3 | c.1331T>C | p.Met444Thr | missense_variant | 12/13 | NP_001189784.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP3A4 | ENST00000651514.1 | c.1334T>C | p.Met445Thr | missense_variant | 12/13 | NM_017460.6 | ENSP00000498939 | P1 |
Frequencies
GnomAD3 genomes AF: 0.00496 AC: 755AN: 152214Hom.: 5 Cov.: 32
GnomAD3 exomes AF: 0.00524 AC: 1317AN: 251364Hom.: 8 AF XY: 0.00509 AC XY: 691AN XY: 135842
GnomAD4 exome AF: 0.00636 AC: 9296AN: 1461396Hom.: 42 Cov.: 31 AF XY: 0.00606 AC XY: 4404AN XY: 727004
GnomAD4 genome AF: 0.00496 AC: 755AN: 152332Hom.: 5 Cov.: 32 AF XY: 0.00537 AC XY: 400AN XY: 74500
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at