1-48228927-C-G
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6BP7BS2
The NM_001011547.3(SLC5A9):āc.312C>Gā(p.Gly104Gly) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00161 in 1,613,442 control chromosomes in the GnomAD database, including 2 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_001011547.3 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000940 AC: 143AN: 152176Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.000979 AC: 245AN: 250328Hom.: 0 AF XY: 0.000998 AC XY: 135AN XY: 135292
GnomAD4 exome AF: 0.00168 AC: 2454AN: 1461148Hom.: 2 Cov.: 31 AF XY: 0.00163 AC XY: 1188AN XY: 726856
GnomAD4 genome AF: 0.000939 AC: 143AN: 152294Hom.: 0 Cov.: 32 AF XY: 0.000913 AC XY: 68AN XY: 74462
ClinVar
Submissions by phenotype
SLC5A9-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