6-43843237-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007059588.1(LOC105375070):n.315+604G>A variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.669 in 152,058 control chromosomes in the GnomAD database, including 34,870 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
XR_007059588.1 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 |
---|---|---|---|---|---|---|---|
LOC105375070 | XR_007059588.1 | n.315+604G>A | intron_variant, non_coding_transcript_variant | ||||
POLR1C | NM_001318876.2 | c.945+313966G>A | intron_variant | ||||
LOC105375070 | XR_007059589.1 | n.315+604G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.670 AC: 101732AN: 151940Hom.: 34866 Cov.: 32
GnomAD4 genome AF: 0.669 AC: 101770AN: 152058Hom.: 34870 Cov.: 32 AF XY: 0.672 AC XY: 49965AN XY: 74350
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at