rs117537178
Variant summary
Our verdict is Benign. Variant got -20 ACMG points: 0P and 20B. BP4_StrongBP6_Very_StrongBS1BS2
The NM_004204.5(PIGQ):c.1568G>A(p.Gly523Asp) variant causes a missense change. The variant allele was found at a frequency of 0.00184 in 1,603,782 control chromosomes in the GnomAD database, including 50 homozygotes. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Benign (★★). Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G523S) has been classified as Benign.
Frequency
Consequence
NM_004204.5 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -20 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PIGQ | NM_004204.5 | c.1568G>A | p.Gly523Asp | missense_variant | 10/11 | ENST00000321878.10 | |
PIGQ | NM_148920.4 | c.1532-599G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PIGQ | ENST00000321878.10 | c.1568G>A | p.Gly523Asp | missense_variant | 10/11 | 1 | NM_004204.5 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.00310 AC: 472AN: 152232Hom.: 13 Cov.: 33
GnomAD3 exomes AF: 0.00576 AC: 1381AN: 239624Hom.: 22 AF XY: 0.00570 AC XY: 745AN XY: 130800
GnomAD4 exome AF: 0.00171 AC: 2480AN: 1451432Hom.: 37 Cov.: 31 AF XY: 0.00201 AC XY: 1446AN XY: 720636
GnomAD4 genome ? AF: 0.00312 AC: 476AN: 152350Hom.: 13 Cov.: 33 AF XY: 0.00368 AC XY: 274AN XY: 74502
ClinVar
Submissions by phenotype
PIGQ-related disorder Benign:1
Benign, criteria provided, single submitter | clinical testing | PreventionGenetics, part of Exact Sciences | Apr 17, 2019 | This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications). - |
Epilepsy Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Feb 01, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at