5-69400113-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_133338.3(RAD17):āc.1637T>Gā(p.Leu546Arg) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.305 in 1,597,920 control chromosomes in the GnomAD database, including 77,290 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 variant affecting the same amino acid position, but resulting in a different missense (i.e. L546F) has been classified as Uncertain significance.
Frequency
Consequence
NM_133338.3 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: 0.251 AC: 38000AN: 151598Hom.: 5664 Cov.: 31
GnomAD3 exomes AF: 0.292 AC: 71463AN: 244966Hom.: 11118 AF XY: 0.300 AC XY: 39861AN XY: 132696
GnomAD4 exome AF: 0.310 AC: 448794AN: 1446206Hom.: 71622 Cov.: 33 AF XY: 0.312 AC XY: 224674AN XY: 719190
GnomAD4 genome AF: 0.250 AC: 38004AN: 151714Hom.: 5668 Cov.: 31 AF XY: 0.254 AC XY: 18848AN XY: 74142
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at