rs771791137
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The NM_001010855.4(PIK3R6):c.1138G>T(p.Asp380Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000344 in 1,455,088 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 9/14 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
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD3 exomes AF: 0.00000853 AC: 2AN: 234484Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 128454
GnomAD4 exome AF: 0.00000344 AC: 5AN: 1455088Hom.: 0 Cov.: 32 AF XY: 0.00000138 AC XY: 1AN XY: 723290
GnomAD4 genome Cov.: 33
ClinVar
Submissions by phenotype
not specified Uncertain:1
The c.1138G>T (p.D380Y) alteration is located in exon 11 (coding exon 10) of the PIK3R6 gene. This alteration results from a G to T substitution at nucleotide position 1138, causing the aspartic acid (D) at amino acid position 380 to be replaced by a tyrosine (Y). 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