1-155309931-C-T
Variant summary
Our verdict is Benign. Variant got -13 ACMG points: 0P and 13B. BP4_StrongBP6BS1BS2
The NM_002004.4(FDPS):c.142C>T(p.Arg48Cys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00267 in 1,604,308 control chromosomes in the GnomAD database, including 21 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 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -13 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.00665 AC: 1011AN: 152134Hom.: 6 Cov.: 31
GnomAD3 exomes AF: 0.00291 AC: 705AN: 242260Hom.: 9 AF XY: 0.00244 AC XY: 321AN XY: 131536
GnomAD4 exome AF: 0.00226 AC: 3279AN: 1452056Hom.: 15 Cov.: 32 AF XY: 0.00214 AC XY: 1545AN XY: 720624
GnomAD4 genome AF: 0.00665 AC: 1012AN: 152252Hom.: 6 Cov.: 31 AF XY: 0.00652 AC XY: 485AN XY: 74434
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