rs758398844
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_138370.3(PKDCC):āc.17C>Gā(p.Ala6Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000406 in 1,207,346 control chromosomes in the GnomAD database, with no homozygous occurrence. 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.
Frequency
Consequence
NM_138370.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000683 AC: 1AN: 146348Hom.: 0 Cov.: 30
GnomAD4 exome AF: 0.0000452 AC: 48AN: 1060998Hom.: 0 Cov.: 31 AF XY: 0.0000485 AC XY: 25AN XY: 515534
GnomAD4 genome AF: 0.00000683 AC: 1AN: 146348Hom.: 0 Cov.: 30 AF XY: 0.00 AC XY: 0AN XY: 71192
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at