rs201103784
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 3P and 4B. PM2PP3BP4_Strong
The NM_001042450.4(SLC5A10):c.202G>A(p.Ala68Thr) variant causes a missense change involving the alteration of a conserved nucleotide. The variant allele was found at a frequency of 0.000133 in 1,611,786 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A68S) has been classified as Uncertain significance.
Frequency
Consequence
NM_001042450.4 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.000361 AC: 55AN: 152220Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.000364 AC: 91AN: 250306Hom.: 0 AF XY: 0.000354 AC XY: 48AN XY: 135556
GnomAD4 exome AF: 0.000110 AC: 160AN: 1459448Hom.: 0 Cov.: 32 AF XY: 0.000108 AC XY: 78AN XY: 725524
GnomAD4 genome AF: 0.000361 AC: 55AN: 152338Hom.: 0 Cov.: 33 AF XY: 0.000604 AC XY: 45AN XY: 74496
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at