ENST00000560676.5:c.14A>C
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The ENST00000560676.5(AKAP13):āc.14A>Cā(p.His5Pro) variant causes a missense change. The variant allele was found at a frequency of 0.0000026 in 1,535,956 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. H5R) has been classified as Likely benign.
Frequency
Consequence
ENST00000560676.5 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AKAP13 | NM_007200.5 | c.4162-19269A>C | intron_variant | Intron 8 of 36 | ENST00000394518.7 | NP_009131.2 | ||
AKAP13 | NM_001270546.1 | c.14A>C | p.His5Pro | missense_variant | Exon 1 of 29 | NP_001257475.1 | ||
AKAP13 | NM_006738.6 | c.4162-19269A>C | intron_variant | Intron 8 of 36 | NP_006729.4 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152168Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000217 AC: 3AN: 1383788Hom.: 0 Cov.: 32 AF XY: 0.00000293 AC XY: 2AN XY: 682840
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152168Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74348
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at