19-15380133-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_014371.4(AKAP8L):c.1930G>A(p.Gly644Ser) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000014 in 1,496,036 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_014371.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKAP8L | NM_014371.4 | c.1930G>A | p.Gly644Ser | missense_variant | 14/14 | ENST00000397410.10 | |
AKAP8L | NM_001291478.2 | c.1747G>A | p.Gly583Ser | missense_variant | 14/14 | ||
AKAP8L | NR_111971.2 | n.2030G>A | non_coding_transcript_exon_variant | 16/16 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKAP8L | ENST00000397410.10 | c.1930G>A | p.Gly644Ser | missense_variant | 14/14 | 1 | NM_014371.4 | P2 | |
ENST00000597164.2 | n.97+725C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 152204Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000220 AC: 2AN: 91052Hom.: 0 AF XY: 0.0000387 AC XY: 2AN XY: 51746
GnomAD4 exome AF: 0.0000127 AC: 17AN: 1343832Hom.: 0 Cov.: 35 AF XY: 0.0000136 AC XY: 9AN XY: 662990
GnomAD4 genome AF: 0.0000263 AC: 4AN: 152204Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at