rs77092376
Variant summary
Our verdict is Benign. Variant got -14 ACMG points: 0P and 14B. BP4_StrongBP6BP7BS1BS2
The NM_004461.3(FARSA):c.849G>A(p.Ala283Ala) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00159 in 1,589,218 control chromosomes in the GnomAD database, including 25 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_004461.3 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -14 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00777 AC: 1181AN: 152086Hom.: 15 Cov.: 32
GnomAD3 exomes AF: 0.00230 AC: 480AN: 208876Hom.: 3 AF XY: 0.00165 AC XY: 186AN XY: 112754
GnomAD4 exome AF: 0.000934 AC: 1342AN: 1437022Hom.: 10 Cov.: 33 AF XY: 0.000816 AC XY: 582AN XY: 712898
GnomAD4 genome AF: 0.00779 AC: 1186AN: 152196Hom.: 15 Cov.: 32 AF XY: 0.00731 AC XY: 544AN XY: 74398
ClinVar
Submissions by phenotype
FARSA-related disorder Benign:1
This variant is classified as 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