chr6-46652515-C-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_016593.5(CYP39A1):āc.68G>Cā(p.Arg23Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.212 in 1,612,888 control chromosomes in the GnomAD database, including 38,328 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 the same amino acid substitution has been previously reported as Likely benign in UniProt.
Frequency
Consequence
NM_016593.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CYP39A1 | ENST00000275016.3 | c.68G>C | p.Arg23Pro | missense_variant | Exon 1 of 12 | 1 | NM_016593.5 | ENSP00000275016.2 | ||
CYP39A1 | ENST00000619708.4 | c.-274G>C | 5_prime_UTR_variant | Exon 1 of 11 | 1 | ENSP00000477769.1 |
Frequencies
GnomAD3 genomes AF: 0.167 AC: 25446AN: 152022Hom.: 2674 Cov.: 32
GnomAD3 exomes AF: 0.201 AC: 50347AN: 250374Hom.: 5726 AF XY: 0.211 AC XY: 28545AN XY: 135336
GnomAD4 exome AF: 0.216 AC: 316200AN: 1460750Hom.: 35652 Cov.: 33 AF XY: 0.220 AC XY: 159628AN XY: 726620
GnomAD4 genome AF: 0.167 AC: 25447AN: 152138Hom.: 2676 Cov.: 32 AF XY: 0.168 AC XY: 12473AN XY: 74382
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at