7-100397887-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_013439.3(PILRA):c.682C>T(p.Arg228Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000102 in 1,613,772 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 15/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_013439.3 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000723 AC: 11AN: 152154Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.000167 AC: 42AN: 251318Hom.: 0 AF XY: 0.000169 AC XY: 23AN XY: 135828
GnomAD4 exome AF: 0.000105 AC: 154AN: 1461618Hom.: 0 Cov.: 31 AF XY: 0.000117 AC XY: 85AN XY: 727122
GnomAD4 genome AF: 0.0000723 AC: 11AN: 152154Hom.: 0 Cov.: 31 AF XY: 0.0000942 AC XY: 7AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.682C>T (p.R228W) alteration is located in exon 4 (coding exon 4) of the PILRA gene. This alteration results from a C to T substitution at nucleotide position 682, causing the arginine (R) at amino acid position 228 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