8-81815353-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_152836.3(SNX16):c.653G>A(p.Gly218Asp) variant causes a missense change. The variant allele was found at a frequency of 0.00000186 in 1,612,552 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152836.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
SNX16 | NM_152836.3 | c.653G>A | p.Gly218Asp | missense_variant | Exon 5 of 8 | ENST00000345957.9 | NP_690049.1 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000658 AC: 1AN: 151934Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.00000399 AC: 1AN: 250802Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135526
GnomAD4 exome AF: 0.00000137 AC: 2AN: 1460618Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 726672
GnomAD4 genome AF: 0.00000658 AC: 1AN: 151934Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74204
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.653G>A (p.G218D) alteration is located in exon 6 (coding exon 4) of the SNX16 gene. This alteration results from a G to A substitution at nucleotide position 653, causing the glycine (G) at amino acid position 218 to be replaced by an aspartic acid (D). 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