chr19-15355193-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_005858.4(AKAP8):c.1801G>A(p.Gly601Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000118 in 1,611,724 control chromosomes in the GnomAD database, including 1 homozygotes. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_005858.4 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 |
---|---|---|---|---|---|---|---|
AKAP8 | NM_005858.4 | c.1801G>A | p.Gly601Arg | missense_variant | 14/14 | ENST00000269701.7 | |
LOC124904643 | XR_007067146.1 | n.286-6858C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKAP8 | ENST00000269701.7 | c.1801G>A | p.Gly601Arg | missense_variant | 14/14 | 1 | NM_005858.4 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000200 AC: 5AN: 249394Hom.: 0 AF XY: 0.0000148 AC XY: 2AN XY: 135106
GnomAD4 exome AF: 0.0000123 AC: 18AN: 1459542Hom.: 1 Cov.: 31 AF XY: 0.0000110 AC XY: 8AN XY: 726200
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152182Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74344
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Aug 02, 2022 | The c.1801G>A (p.G601R) alteration is located in exon 14 (coding exon 14) of the AKAP8 gene. This alteration results from a G to A substitution at nucleotide position 1801, causing the glycine (G) at amino acid position 601 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at