7-4791348-G-C
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_014855.3(AP5Z1):āc.2387G>Cā(p.Arg796Pro) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000124 in 1,608,726 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_014855.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
AP5Z1 | NM_014855.3 | c.2387G>C | p.Arg796Pro | missense_variant | 17/17 | ENST00000649063.2 | NP_055670.1 | |
AP5Z1 | NM_001364858.1 | c.1919G>C | p.Arg640Pro | missense_variant | 16/16 | NP_001351787.1 | ||
AP5Z1 | XM_047421098.1 | c.2051G>C | p.Arg684Pro | missense_variant | 15/15 | XP_047277054.1 | ||
AP5Z1 | NR_157345.1 | n.2518G>C | non_coding_transcript_exon_variant | 17/17 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
AP5Z1 | ENST00000649063.2 | c.2387G>C | p.Arg796Pro | missense_variant | 17/17 | NM_014855.3 | ENSP00000497815.1 |
Frequencies
GnomAD3 genomes AF: 0.00000657 AC: 1AN: 152270Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.00000424 AC: 1AN: 235844Hom.: 0 AF XY: 0.00000776 AC XY: 1AN XY: 128942
GnomAD4 exome AF: 6.87e-7 AC: 1AN: 1456456Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 724106
GnomAD4 genome AF: 0.00000657 AC: 1AN: 152270Hom.: 0 Cov.: 33 AF XY: 0.0000134 AC XY: 1AN XY: 74388
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at