22-36199341-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_StrongBS2
The NM_001386885.1(APOL4):c.71G>A(p.Gly24Glu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000425 in 1,614,126 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. 12/15 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001386885.1 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 rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
APOL4 | NM_001386885.1 | c.71G>A | p.Gly24Glu | missense_variant | Exon 2 of 4 | ENST00000683024.1 | NP_001373814.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000348 AC: 53AN: 152236Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000536 AC: 134AN: 250126Hom.: 0 AF XY: 0.000693 AC XY: 94AN XY: 135578
GnomAD4 exome AF: 0.000433 AC: 633AN: 1461772Hom.: 3 Cov.: 32 AF XY: 0.000483 AC XY: 351AN XY: 727168
GnomAD4 genome AF: 0.000348 AC: 53AN: 152354Hom.: 0 Cov.: 33 AF XY: 0.000389 AC XY: 29AN XY: 74506
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.80G>A (p.G27E) alteration is located in exon 3 (coding exon 2) of the APOL4 gene. This alteration results from a G to A substitution at nucleotide position 80, causing the glycine (G) at amino acid position 27 to be replaced by a glutamic acid (E). 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