chr18-54293839-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The NM_007195.3(POLI):āc.1595T>Cā(p.Phe532Ser) variant causes a missense change. The variant allele was found at a frequency of 0.028 in 1,610,050 control chromosomes in the GnomAD database, including 746 homozygotes. In-silico tool predicts 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_007195.3 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: 0.0223 AC: 3385AN: 152120Hom.: 53 Cov.: 32
GnomAD3 exomes AF: 0.0234 AC: 5736AN: 244740Hom.: 112 AF XY: 0.0235 AC XY: 3112AN XY: 132196
GnomAD4 exome AF: 0.0286 AC: 41733AN: 1457812Hom.: 693 Cov.: 31 AF XY: 0.0281 AC XY: 20403AN XY: 724942
GnomAD4 genome AF: 0.0222 AC: 3382AN: 152238Hom.: 53 Cov.: 32 AF XY: 0.0214 AC XY: 1595AN XY: 74434
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at