17-8821914-C-A
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001010855.4(PIK3R6):c.1811G>T(p.Arg604Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000566 in 1,588,762 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 10/14 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_001010855.4 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: 0.0000394 AC: 6AN: 152164Hom.: 0 Cov.: 31
GnomAD3 exomes AF: 0.00000974 AC: 2AN: 205388Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 110400
GnomAD4 exome AF: 0.00000209 AC: 3AN: 1436480Hom.: 0 Cov.: 31 AF XY: 0.00 AC XY: 0AN XY: 711902
GnomAD4 genome AF: 0.0000394 AC: 6AN: 152282Hom.: 0 Cov.: 31 AF XY: 0.0000806 AC XY: 6AN XY: 74482
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1811G>T (p.R604L) alteration is located in exon 17 (coding exon 16) of the PIK3R6 gene. This alteration results from a G to T substitution at nucleotide position 1811, causing the arginine (R) at amino acid position 604 to be replaced by a leucine (L). 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