NM_002578.5:c.546_548dupAGA
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 1P and 4B. PP3BS2
The NM_002578.5(PAK3):c.546_548dupAGA(p.Glu182dup) variant causes a disruptive inframe insertion change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.00000749 in 1,201,583 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 5 hemizygotes in GnomAD. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. D183D) has been classified as Likely benign.
Frequency
Consequence
NM_002578.5 disruptive_inframe_insertion
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: 0.0000451 AC: 5AN: 110903Hom.: 0 Cov.: 23 AF XY: 0.0000903 AC XY: 3AN XY: 33209
GnomAD3 exomes AF: 0.0000332 AC: 6AN: 180542Hom.: 0 AF XY: 0.0000300 AC XY: 2AN XY: 66746
GnomAD4 exome AF: 0.00000367 AC: 4AN: 1090680Hom.: 0 Cov.: 28 AF XY: 0.00000561 AC XY: 2AN XY: 356686
GnomAD4 genome AF: 0.0000451 AC: 5AN: 110903Hom.: 0 Cov.: 23 AF XY: 0.0000903 AC XY: 3AN XY: 33209
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at