15-85645774-T-TG
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP6
The NM_007200.5(AKAP13):c.4238-43dupG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000273 in 1,427,944 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_007200.5 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AKAP13 | NM_007200.5 | c.4238-43dupG | intron_variant | Intron 9 of 36 | ENST00000394518.7 | NP_009131.2 | ||
AKAP13 | NM_006738.6 | c.4238-43dupG | intron_variant | Intron 9 of 36 | NP_006729.4 | |||
AKAP13 | NM_001270546.1 | c.158-43dupG | intron_variant | Intron 2 of 28 | NP_001257475.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000349 AC: 3AN: 85890Hom.: 0 Cov.: 25
GnomAD3 exomes AF: 0.0000340 AC: 4AN: 117598Hom.: 0 AF XY: 0.0000307 AC XY: 2AN XY: 65160
GnomAD4 exome AF: 0.0000268 AC: 36AN: 1341976Hom.: 0 Cov.: 25 AF XY: 0.0000285 AC XY: 19AN XY: 666904
GnomAD4 genome AF: 0.0000349 AC: 3AN: 85968Hom.: 0 Cov.: 25 AF XY: 0.0000234 AC XY: 1AN XY: 42812
ClinVar
Submissions by phenotype
AKAP13-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at