chr19-15372925-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_005858.4(AKAP8):c.787G>T(p.Gly263Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000729 in 1,372,602 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G263R) has been classified as Likely benign.
Frequency
Consequence
NM_005858.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKAP8 | NM_005858.4 | c.787G>T | p.Gly263Trp | missense_variant | 5/14 | ENST00000269701.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKAP8 | ENST00000269701.7 | c.787G>T | p.Gly263Trp | missense_variant | 5/14 | 1 | NM_005858.4 | P2 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.00000563 AC: 1AN: 177604Hom.: 0 AF XY: 0.0000106 AC XY: 1AN XY: 94506
GnomAD4 exome AF: 7.29e-7 AC: 1AN: 1372602Hom.: 0 Cov.: 31 AF XY: 0.00000149 AC XY: 1AN XY: 673304
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at