chr15-64818037-C-T
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_001286496.2(PIF1):c.1583G>A(p.Arg528His) variant causes a missense change. The variant allele was found at a frequency of 0.0000198 in 1,613,636 control chromosomes in the GnomAD database, with no homozygous occurrence. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001286496.2 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0000526 AC: 8AN: 152156Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000482 AC: 12AN: 249196Hom.: 0 AF XY: 0.0000445 AC XY: 6AN XY: 134896
GnomAD4 exome AF: 0.0000164 AC: 24AN: 1461480Hom.: 0 Cov.: 32 AF XY: 0.0000110 AC XY: 8AN XY: 727010
GnomAD4 genome AF: 0.0000526 AC: 8AN: 152156Hom.: 0 Cov.: 32 AF XY: 0.0000269 AC XY: 2AN XY: 74324
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1583G>A (p.R528H) alteration is located in exon 11 (coding exon 10) of the PIF1 gene. This alteration results from a G to A substitution at nucleotide position 1583, causing the arginine (R) at amino acid position 528 to be replaced by a histidine (H). 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