rs782360331
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_StrongBP6BP7BS2
The NM_001032382.2(PQBP1):āc.288T>Cā(p.Asn96=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000579 in 1,209,540 control chromosomes in the GnomAD database, with no homozygous occurrence. There are 4 hemizygotes in GnomAD. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Conflicting classifications of pathogenicity (no stars).
Frequency
Consequence
NM_001032382.2 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
PQBP1 | NM_001032382.2 | c.288T>C | p.Asn96= | synonymous_variant | 4/7 | ENST00000447146.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
PQBP1 | ENST00000447146.7 | c.288T>C | p.Asn96= | synonymous_variant | 4/7 | 1 | NM_001032382.2 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.0000180 AC: 2AN: 111305Hom.: 0 Cov.: 22 AF XY: 0.0000597 AC XY: 2AN XY: 33499
GnomAD3 exomes AF: 0.0000327 AC: 6AN: 183423Hom.: 0 AF XY: 0.0000147 AC XY: 1AN XY: 67873
GnomAD4 exome AF: 0.00000455 AC: 5AN: 1098235Hom.: 0 Cov.: 35 AF XY: 0.00000550 AC XY: 2AN XY: 363589
GnomAD4 genome ? AF: 0.0000180 AC: 2AN: 111305Hom.: 0 Cov.: 22 AF XY: 0.0000597 AC XY: 2AN XY: 33499
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Genetic Services Laboratory, University of Chicago | Apr 22, 2015 | - - |
not provided Benign:1
Benign, criteria provided, single submitter | clinical testing | Invitae | Jan 03, 2024 | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at