2-27375604-C-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP6BS2
The NM_014748.4(SNX17):c.873C>T(p.Ser291Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00148 in 1,614,162 control chromosomes in the GnomAD database, including 3 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_014748.4 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00105 AC: 160AN: 152184Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000986 AC: 248AN: 251432Hom.: 0 AF XY: 0.000993 AC XY: 135AN XY: 135904
GnomAD4 exome AF: 0.00152 AC: 2229AN: 1461860Hom.: 3 Cov.: 33 AF XY: 0.00148 AC XY: 1073AN XY: 727238
GnomAD4 genome AF: 0.00105 AC: 160AN: 152302Hom.: 0 Cov.: 32 AF XY: 0.00103 AC XY: 77AN XY: 74466
ClinVar
Submissions by phenotype
SNX17-related disorder Benign:1
This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at