6-43966925-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000687455.1(SCIRT):n.233+34118G>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 0.507 in 151,934 control chromosomes in the GnomAD database, including 19,984 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
ENST00000687455.1 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 |
---|---|---|---|---|---|---|---|
POLR1C | NM_001318876.2 | c.945+437654C>T | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
SCIRT | ENST00000687455.1 | n.233+34118G>A | intron_variant, non_coding_transcript_variant | ||||||
SCIRT | ENST00000687158.2 | n.519+32293G>A | intron_variant, non_coding_transcript_variant | ||||||
SCIRT | ENST00000687843.1 | n.592+32293G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.508 AC: 77051AN: 151816Hom.: 19972 Cov.: 33
GnomAD4 genome AF: 0.507 AC: 77094AN: 151934Hom.: 19984 Cov.: 33 AF XY: 0.514 AC XY: 38184AN XY: 74278
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at