chrX-49191511-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_003179.3(SYP):c.868G>A(p.Gly290Arg) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000165 in 1,210,064 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 1 hemizygotes in GnomAD. 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. G290W) has been classified as Likely benign.
Frequency
Consequence
NM_003179.3 missense
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00000885 AC: 1AN: 113041Hom.: 0 Cov.: 24 AF XY: 0.0000284 AC XY: 1AN XY: 35173
GnomAD4 exome AF: 9.12e-7 AC: 1AN: 1097023Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 362809
GnomAD4 genome AF: 0.00000885 AC: 1AN: 113041Hom.: 0 Cov.: 24 AF XY: 0.0000284 AC XY: 1AN XY: 35173
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at