7-17796877-C-T
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The NM_015132.5(SNX13):c.2576G>A(p.Arg859Gln) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.0000832 in 1,611,076 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_015132.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNX13 | NM_015132.5 | c.2576G>A | p.Arg859Gln | missense_variant | Exon 25 of 26 | ENST00000428135.7 | NP_055947.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000724 AC: 11AN: 151848Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000403 AC: 10AN: 248124Hom.: 0 AF XY: 0.0000594 AC XY: 8AN XY: 134648
GnomAD4 exome AF: 0.0000843 AC: 123AN: 1459228Hom.: 0 Cov.: 30 AF XY: 0.0000854 AC XY: 62AN XY: 725904
GnomAD4 genome AF: 0.0000724 AC: 11AN: 151848Hom.: 0 Cov.: 32 AF XY: 0.0000539 AC XY: 4AN XY: 74184
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.2576G>A (p.R859Q) alteration is located in exon 25 (coding exon 25) of the SNX13 gene. This alteration results from a G to A substitution at nucleotide position 2576, causing the arginine (R) at amino acid position 859 to be replaced by a glutamine (Q). 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