16-2971330-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_152341.5(PAQR4):c.340C>T(p.Arg114Trp) variant causes a missense change. The variant allele was found at a frequency of 0.0000323 in 1,611,794 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_152341.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 1 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000394 AC: 6AN: 152222Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.0000480 AC: 12AN: 249794Hom.: 0 AF XY: 0.0000443 AC XY: 6AN XY: 135328
GnomAD4 exome AF: 0.0000315 AC: 46AN: 1459572Hom.: 0 Cov.: 32 AF XY: 0.0000344 AC XY: 25AN XY: 726216
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152222Hom.: 0 Cov.: 34 AF XY: 0.0000538 AC XY: 4AN XY: 74366
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.340C>T (p.R114W) alteration is located in exon 2 (coding exon 2) of the PAQR4 gene. This alteration results from a C to T substitution at nucleotide position 340, causing the arginine (R) at amino acid position 114 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at