rs3869066
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_026751.2(POLR1HASP):n.443-4T>C variant causes a splice region, splice polypyrimidine tract, intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.028 in 456,638 control chromosomes in the GnomAD database, including 376 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
NR_026751.2 splice_region, splice_polypyrimidine_tract, 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 |
---|---|---|---|---|---|---|---|
POLR1HASP | NR_026751.2 | n.443-4T>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant | ||||
POLR1HASP | NR_145416.1 | n.443-4T>C | splice_region_variant, splice_polypyrimidine_tract_variant, intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLR1HASP | ENST00000688495.1 | n.360+22128T>C | intron_variant, non_coding_transcript_variant | ||||||
ENST00000610339.1 | downstream_gene_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0221 AC: 3357AN: 152224Hom.: 71 Cov.: 32
GnomAD3 exomes AF: 0.0376 AC: 5144AN: 136902Hom.: 219 AF XY: 0.0344 AC XY: 2561AN XY: 74350
GnomAD4 exome AF: 0.0310 AC: 9436AN: 304296Hom.: 305 Cov.: 0 AF XY: 0.0291 AC XY: 5048AN XY: 173280
GnomAD4 genome ? AF: 0.0221 AC: 3365AN: 152342Hom.: 71 Cov.: 32 AF XY: 0.0221 AC XY: 1643AN XY: 74504
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at