2-96327413-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 1 ACMG points: 2P and 1B. PM2BP4
The NM_001008949.3(ITPRIPL1):c.782G>A(p.Arg261His) variant causes a missense change. The variant allele was found at a frequency of 0.0000217 in 1,613,732 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_001008949.3 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: 0.0000789 AC: 12AN: 152140Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 250788Hom.: 0 AF XY: 0.0000221 AC XY: 3AN XY: 135582
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461592Hom.: 0 Cov.: 35 AF XY: 0.0000165 AC XY: 12AN XY: 727078
GnomAD4 genome AF: 0.0000789 AC: 12AN: 152140Hom.: 0 Cov.: 32 AF XY: 0.0000673 AC XY: 5AN XY: 74304
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.806G>A (p.R269H) alteration is located in exon 1 (coding exon 1) of the ITPRIPL1 gene. This alteration results from a G to A substitution at nucleotide position 806, causing the arginine (R) at amino acid position 269 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