1-155310055-C-T
Variant summary
Our verdict is Benign. Variant got -8 ACMG points: 0P and 8B. BP4_ModerateBP6BP7BS2
The NM_002004.4(FDPS):c.189C>T(p.Ser63Ser) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00185 in 1,613,606 control chromosomes in the GnomAD database, including 10 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (no stars).
Frequency
Consequence
NM_002004.4 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -8 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00249 AC: 379AN: 152186Hom.: 2 Cov.: 32
GnomAD3 exomes AF: 0.00258 AC: 647AN: 251134Hom.: 4 AF XY: 0.00261 AC XY: 354AN XY: 135888
GnomAD4 exome AF: 0.00179 AC: 2610AN: 1461302Hom.: 8 Cov.: 32 AF XY: 0.00176 AC XY: 1280AN XY: 726968
GnomAD4 genome AF: 0.00249 AC: 379AN: 152304Hom.: 2 Cov.: 32 AF XY: 0.00303 AC XY: 226AN XY: 74482
ClinVar
Submissions by phenotype
FDPS-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