rs17506606
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_019590.5(KIAA1217):āc.434C>Gā(p.Ala145Gly) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.222 in 1,607,060 control chromosomes in the GnomAD database, including 43,771 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_019590.5 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.175 AC: 26536AN: 151994Hom.: 3039 Cov.: 32
GnomAD3 exomes AF: 0.190 AC: 46884AN: 247214Hom.: 5622 AF XY: 0.198 AC XY: 26445AN XY: 133772
GnomAD4 exome AF: 0.228 AC: 331033AN: 1454948Hom.: 40732 Cov.: 32 AF XY: 0.228 AC XY: 164668AN XY: 723566
GnomAD4 genome AF: 0.174 AC: 26526AN: 152112Hom.: 3039 Cov.: 32 AF XY: 0.171 AC XY: 12735AN XY: 74354
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at