2-104855627-CGGCGGGGGCGGCGCAGGG-CGGCGGGGGCGGCGCAGGGGGCGGGGGCGGCGCAGGG
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_006236.3(POU3F3):c.131_148dupCAGGGGGCGGGGGCGGCG(p.Ala44_Gly49dup) variant causes a disruptive inframe insertion change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000175 in 570,352 control chromosomes in the GnomAD database, with no homozygous occurrence. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_006236.3 disruptive_inframe_insertion
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes Cov.: 26
GnomAD4 exome AF: 0.00000175 AC: 1AN: 570352Hom.: 0 Cov.: 25 AF XY: 0.00 AC XY: 0AN XY: 264758
GnomAD4 genome Cov.: 26
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at
Publications
No publications associated with this variant yet.