rs10891246
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000638573.1(POU2AF3):c.37A>G(p.Thr13Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.709 in 948,442 control chromosomes in the GnomAD database, including 239,625 homozygotes. In-silico tool predicts a benign outcome for this variant. 7/8 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
ENST00000638573.1 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 | UniProt |
---|---|---|---|---|---|---|---|
POU2AF3 | NM_001271458.2 | c.8-712A>G | intron_variant | ENST00000610738.6 | |||
COLCA1 | NR_169237.1 | n.222-1149T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POU2AF3 | ENST00000610738.6 | c.8-712A>G | intron_variant | 1 | NM_001271458.2 | P2 | |||
COLCA1 | ENST00000620864.1 | n.219-1149T>C | intron_variant, non_coding_transcript_variant | 1 |
Frequencies
GnomAD3 genomes ? AF: 0.725 AC: 110187AN: 152040Hom.: 40077 Cov.: 33
GnomAD4 exome AF: 0.706 AC: 561861AN: 796284Hom.: 199513 Cov.: 10 AF XY: 0.707 AC XY: 270303AN XY: 382236
GnomAD4 genome ? AF: 0.725 AC: 110274AN: 152158Hom.: 40112 Cov.: 33 AF XY: 0.728 AC XY: 54175AN XY: 74400
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at