rs764595423
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_002031.3(FRK):c.484G>T(p.Val162Leu) variant causes a missense change. The variant allele was found at a frequency of 0.0000589 in 1,612,724 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a pathogenic 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. V162I) has been classified as Uncertain significance.
Frequency
Consequence
NM_002031.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000460 AC: 7AN: 152114Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000799 AC: 20AN: 250344Hom.: 0 AF XY: 0.0000887 AC XY: 12AN XY: 135234
GnomAD4 exome AF: 0.0000602 AC: 88AN: 1460610Hom.: 0 Cov.: 30 AF XY: 0.0000619 AC XY: 45AN XY: 726496
GnomAD4 genome AF: 0.0000460 AC: 7AN: 152114Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74312
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at