rs76296626
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_000306.4(POU1F1):c.666-5G>T variant causes a splice region, splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000686 in 1,458,642 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 3/3 splice prediction tools predict no significant impact on normal splicing. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_000306.4 splice_region, splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POU1F1 | NM_000306.4 | c.666-5G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | ENST00000350375.7 | |||
POU1F1 | NM_001122757.3 | c.744-5G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POU1F1 | ENST00000350375.7 | c.666-5G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 1 | NM_000306.4 | P4 | |||
POU1F1 | ENST00000344265.8 | c.744-5G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | A1 | ||||
POU1F1 | ENST00000560656.1 | c.440-5G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 | |||||
POU1F1 | ENST00000561167.5 | c.441-5G>T | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant | 5 |
Frequencies
GnomAD3 genomes ? Cov.: 32
GnomAD3 exomes AF: 0.00000410 AC: 1AN: 243964Hom.: 0 AF XY: 0.00000756 AC XY: 1AN XY: 132210
GnomAD4 exome AF: 6.86e-7 AC: 1AN: 1458642Hom.: 0 Cov.: 31 AF XY: 0.00000138 AC XY: 1AN XY: 725526
GnomAD4 genome ? Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at