22-35659150-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_030641.4(APOL6):c.586C>T(p.Arg196Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000141 in 1,614,198 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 12/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_030641.4 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 |
---|---|---|---|---|---|---|---|
APOL6 | NM_030641.4 | c.586C>T | p.Arg196Cys | missense_variant | 3/3 | ENST00000409652.5 | |
APOL6 | XM_011530392.4 | c.586C>T | p.Arg196Cys | missense_variant | 4/4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
APOL6 | ENST00000409652.5 | c.586C>T | p.Arg196Cys | missense_variant | 3/3 | 1 | NM_030641.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.000164 AC: 25AN: 152196Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000159 AC: 40AN: 251140Hom.: 0 AF XY: 0.000206 AC XY: 28AN XY: 135712
GnomAD4 exome AF: 0.000137 AC: 201AN: 1461884Hom.: 0 Cov.: 32 AF XY: 0.000164 AC XY: 119AN XY: 727244
GnomAD4 genome ? AF: 0.000171 AC: 26AN: 152314Hom.: 0 Cov.: 32 AF XY: 0.000188 AC XY: 14AN XY: 74488
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Dec 30, 2023 | The c.586C>T (p.R196C) alteration is located in exon 3 (coding exon 2) of the APOL6 gene. This alteration results from a C to T substitution at nucleotide position 586, causing the arginine (R) at amino acid position 196 to be replaced by a cysteine (C). 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