rs7513351
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_024897.4(PAQR6):c.787G>A(p.Glu263Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.172 in 1,603,656 control chromosomes in the GnomAD database, including 25,552 homozygotes. In-silico tool predicts a benign outcome for this variant. 11/16 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_024897.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PAQR6 | NM_198406.3 | c.1034G>A | p.Ter345Ter | stop_retained_variant | 8/8 | ENST00000292291.10 | NP_940798.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PAQR6 | ENST00000292291.10 | c.1034G>A | p.Ter345Ter | stop_retained_variant | 8/8 | 1 | NM_198406.3 | ENSP00000292291.5 |
Frequencies
GnomAD3 genomes AF: 0.172 AC: 26220AN: 152116Hom.: 2444 Cov.: 33
GnomAD3 exomes AF: 0.196 AC: 48606AN: 247640Hom.: 5403 AF XY: 0.195 AC XY: 26125AN XY: 133664
GnomAD4 exome AF: 0.171 AC: 248843AN: 1451422Hom.: 23091 Cov.: 32 AF XY: 0.174 AC XY: 125048AN XY: 720144
GnomAD4 genome AF: 0.173 AC: 26267AN: 152234Hom.: 2461 Cov.: 33 AF XY: 0.174 AC XY: 12982AN XY: 74432
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at