chrX-48902015-G-A
Variant summary
Our verdict is Likely benign. Variant got -4 ACMG points: 0P and 4B. BS2
The ENST00000447146.7(PQBP1):c.265G>A(p.Ala89Thr) variant causes a missense change. The variant allele was found at a frequency of 0.0000137 in 1,098,211 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 3 hemizygotes in GnomAD. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. A89V) has been classified as Uncertain significance.
Frequency
Consequence
ENST00000447146.7 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -4 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
PQBP1 | NM_001032382.2 | c.265G>A | p.Ala89Thr | missense_variant | 4/7 | ENST00000447146.7 | NP_001027554.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
PQBP1 | ENST00000447146.7 | c.265G>A | p.Ala89Thr | missense_variant | 4/7 | 1 | NM_001032382.2 | ENSP00000391759.2 |
Frequencies
GnomAD3 genomes Cov.: 22
GnomAD3 exomes AF: 0.00000545 AC: 1AN: 183459Hom.: 0 AF XY: 0.00 AC XY: 0AN XY: 67895
GnomAD4 exome AF: 0.0000137 AC: 15AN: 1098211Hom.: 0 Cov.: 35 AF XY: 0.00000825 AC XY: 3AN XY: 363565
GnomAD4 genome Cov.: 22
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at