17-8828180-T-C
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001010855.4(PIK3R6):āc.1324A>Gā(p.Thr442Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000105 in 1,613,772 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 (ā ).
Frequency
Consequence
NM_001010855.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PIK3R6 | NM_001010855.4 | c.1324A>G | p.Thr442Ala | missense_variant | 12/20 | ENST00000619866.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PIK3R6 | ENST00000619866.5 | c.1324A>G | p.Thr442Ala | missense_variant | 12/20 | 5 | NM_001010855.4 | P1 | |
PIK3R6 | ENST00000611951.4 | c.*1389A>G | 3_prime_UTR_variant, NMD_transcript_variant | 12/20 | 2 | ||||
PIK3R6 | ENST00000613555.4 | c.*1116A>G | 3_prime_UTR_variant, NMD_transcript_variant | 11/20 | 2 |
Frequencies
GnomAD3 genomes AF: 0.0000592 AC: 9AN: 152132Hom.: 0 Cov.: 32
GnomAD3 exomes AF: 0.0000281 AC: 7AN: 249234Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 135222
GnomAD4 exome AF: 0.00000547 AC: 8AN: 1461640Hom.: 0 Cov.: 31 AF XY: 0.00000688 AC XY: 5AN XY: 727114
GnomAD4 genome AF: 0.0000592 AC: 9AN: 152132Hom.: 0 Cov.: 32 AF XY: 0.0000135 AC XY: 1AN XY: 74320
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at