17-57106452-A-C
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_003488.4(AKAP1):āc.988A>Cā(p.Ser330Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000693 in 1,442,164 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. 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. S330G) has been classified as Benign.
Frequency
Consequence
NM_003488.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
AKAP1 | NM_003488.4 | c.988A>C | p.Ser330Arg | missense_variant | 2/11 | ENST00000337714.8 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
AKAP1 | ENST00000337714.8 | c.988A>C | p.Ser330Arg | missense_variant | 2/11 | 1 | NM_003488.4 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0000276 AC: 4AN: 144770Hom.: 0 Cov.: 30
GnomAD3 exomes AF: 0.0000260 AC: 6AN: 230600Hom.: 0 AF XY: 0.0000242 AC XY: 3AN XY: 124180
GnomAD4 exome AF: 0.00000462 AC: 6AN: 1297394Hom.: 0 Cov.: 34 AF XY: 0.00000771 AC XY: 5AN XY: 648196
GnomAD4 genome AF: 0.0000276 AC: 4AN: 144770Hom.: 0 Cov.: 30 AF XY: 0.0000426 AC XY: 3AN XY: 70418
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at