11-111358696-A-ACT
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP6_ModerateBA1
The NM_006235.3(POU2AF1):c.147+90_147+91dupAG variant causes a intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.708 in 1,397,740 control chromosomes in the GnomAD database, including 359,529 homozygotes. Variant has been reported in ClinVar as Benign (★).
Frequency
Consequence
NM_006235.3 intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
POU2AF1 | ENST00000393067.8 | c.147+91_147+92insAG | intron_variant | Intron 2 of 4 | 1 | NM_006235.3 | ENSP00000376786.3 | |||
POU2AF1 | ENST00000531398.1 | c.153+91_153+92insAG | intron_variant | Intron 3 of 4 | 4 | ENSP00000433527.1 | ||||
POU2AF1 | ENST00000525584.1 | n.266+91_266+92insAG | intron_variant | Intron 2 of 4 | 3 |
Frequencies
GnomAD3 genomes AF: 0.681 AC: 101587AN: 149180Hom.: 35104 Cov.: 0
GnomAD4 exome AF: 0.711 AC: 887432AN: 1248442Hom.: 324410 AF XY: 0.703 AC XY: 437159AN XY: 621822
GnomAD4 genome AF: 0.681 AC: 101649AN: 149298Hom.: 35119 Cov.: 0 AF XY: 0.675 AC XY: 49172AN XY: 72848
ClinVar
Submissions by phenotype
not specified Benign:1
This variant is classified as Benign based on local population frequency. This variant was detected in 27% of patients studied by a panel of primary immunodeficiencies. Number of patients: 26. Only high quality variants are reported. -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at