rs1944932
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000515029.2(POU2AF1):n.53+3707A>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.498 in 151,938 control chromosomes in the GnomAD database, including 20,035 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
ENST00000515029.2 intron, non_coding_transcript
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 | UniProt |
---|---|---|---|---|---|---|---|
BTG4 | XM_011542876.3 | c.663-26563A>T | intron_variant | ||||
BTG4 | XM_024448587.2 | c.663-26563A>T | intron_variant | ||||
BTG4 | XM_024448588.2 | c.663-26563A>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POU2AF1 | ENST00000515029.2 | n.53+3707A>T | intron_variant, non_coding_transcript_variant | 1 | |||||
POU2AF1 | ENST00000531398.1 | c.-81+18634A>T | intron_variant | 4 | |||||
POU2AF1 | ENST00000525890.1 | n.412+23934A>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.498 AC: 75586AN: 151820Hom.: 19976 Cov.: 31
GnomAD4 genome ? AF: 0.498 AC: 75707AN: 151938Hom.: 20035 Cov.: 31 AF XY: 0.495 AC XY: 36755AN XY: 74268
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at