chr22-36141280-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_145639.2(APOL3):c.916C>T(p.Arg306Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000132 in 1,614,100 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_145639.2 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 |
---|---|---|---|---|---|---|---|
APOL3 | NM_145639.2 | c.916C>T | p.Arg306Trp | missense_variant | 4/4 | ENST00000424878.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOL3 | ENST00000424878.4 | c.916C>T | p.Arg306Trp | missense_variant | 4/4 | 1 | NM_145639.2 | A2 |
Frequencies
GnomAD3 genomes AF: 0.0000789 AC: 12AN: 152088Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.0000795 AC: 20AN: 251458Hom.: 0 AF XY: 0.0000809 AC XY: 11AN XY: 135898
GnomAD4 exome AF: 0.000137 AC: 201AN: 1461894Hom.: 0 Cov.: 29 AF XY: 0.000132 AC XY: 96AN XY: 727248
GnomAD4 genome AF: 0.0000788 AC: 12AN: 152206Hom.: 0 Cov.: 31 AF XY: 0.0000403 AC XY: 3AN XY: 74426
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 07, 2023 | The c.1129C>T (p.R377W) alteration is located in exon 3 (coding exon 3) of the APOL3 gene. This alteration results from a C to T substitution at nucleotide position 1129, causing the arginine (R) at amino acid position 377 to be replaced by a tryptophan (W). 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