chr22-35726309-G-A
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6_ModerateBS1BS2
The NM_030642.1(APOL5):c.241G>A(p.Glu81Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00275 in 1,614,164 control chromosomes in the GnomAD database, including 83 homozygotes. In-silico tool predicts a benign outcome for this variant. 13/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★). Another nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_030642.1 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
APOL5 | NM_030642.1 | c.241G>A | p.Glu81Lys | missense_variant | 3/5 | ENST00000249044.2 | |
APOL5 | XM_006724321.5 | c.193G>A | p.Glu65Lys | missense_variant | 4/6 | ||
APOL5 | XM_017028945.3 | c.25G>A | p.Glu9Lys | missense_variant | 3/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOL5 | ENST00000249044.2 | c.241G>A | p.Glu81Lys | missense_variant | 3/5 | 1 | NM_030642.1 | P1 |
Frequencies
GnomAD3 genomes AF: 0.0132 AC: 2003AN: 152178Hom.: 34 Cov.: 32
GnomAD3 exomes AF: 0.00360 AC: 906AN: 251368Hom.: 20 AF XY: 0.00285 AC XY: 387AN XY: 135868
GnomAD4 exome AF: 0.00166 AC: 2429AN: 1461868Hom.: 46 Cov.: 31 AF XY: 0.00146 AC XY: 1065AN XY: 727232
GnomAD4 genome AF: 0.0132 AC: 2017AN: 152296Hom.: 37 Cov.: 32 AF XY: 0.0129 AC XY: 957AN XY: 74466
ClinVar
Submissions by phenotype
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Sep 06, 2017 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at