rs3757329
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Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000471008.5(POLR1H):n.1749A>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.149 in 152,146 control chromosomes in the GnomAD database, including 2,249 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
Genomes: 𝑓 0.15 ( 2247 hom., cov: 32)
Exomes 𝑓: 0.17 ( 2 hom. )
Consequence
POLR1H
ENST00000471008.5 non_coding_transcript_exon
ENST00000471008.5 non_coding_transcript_exon
Scores
2
Clinical Significance
Not reported in ClinVar
Conservation
PhyloP100: -0.654
Genes affected
POLR1H (HGNC:13182): (RNA polymerase I subunit H) This gene encodes a DNA-directed RNA polymerase I subunit. The encoded protein contains two potential zinc-binding motifs and may play a role in regulation of cell proliferation. The encoded protein may be involved in cancer and human immunodeficiency virus progression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2013]
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ACMG classification
Classification made for transcript
Verdict is Benign. Variant got -12 ACMG points.
BP4
Computational evidence support a benign effect (BayesDel_noAF=-0.84).
BA1
GnomAd4 highest subpopulation (AFR) allele frequency at 95% confidence interval = 0.263 is higher than 0.05.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
POLR1HASP | NR_026751.2 | n.366+94T>G | intron_variant, non_coding_transcript_variant | ||||
POLR1H | XM_047418695.1 | c.-11+570A>C | intron_variant | ||||
POLR1HASP | NR_145416.1 | n.366+94T>G | intron_variant, non_coding_transcript_variant | ||||
POLR1HASP | NR_145418.1 | n.111+432T>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
POLR1HASP | ENST00000688495.1 | n.284+94T>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.148 AC: 22533AN: 151926Hom.: 2236 Cov.: 32
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GnomAD4 exome AF: 0.167 AC: 17AN: 102Hom.: 2 Cov.: 0 AF XY: 0.154 AC XY: 12AN XY: 78
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GnomAD4 genome AF: 0.148 AC: 22577AN: 152044Hom.: 2247 Cov.: 32 AF XY: 0.146 AC XY: 10890AN XY: 74336
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ClinVar
Not reported inComputational scores
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Prediction
BayesDel_noAF
Benign
CADD
Benign
DANN
Benign
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at