rs13211073
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_007059588.1(LOC105375070):n.192+3348C>T 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 0.252 in 152,202 control chromosomes in the GnomAD database, including 5,075 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LOC105375070 | XR_007059588.1 | n.192+3348C>T | intron_variant, non_coding_transcript_variant | |||||
POLR1C | NM_001318876.2 | c.945+271427C>T | intron_variant | NP_001305805.1 | ||||
LOC105375070 | XR_007059589.1 | n.192+3348C>T | intron_variant, non_coding_transcript_variant | |||||
LOC105375070 | XR_926833.3 | n.192+3348C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.252 AC: 38344AN: 152084Hom.: 5071 Cov.: 33
GnomAD4 genome AF: 0.252 AC: 38371AN: 152202Hom.: 5075 Cov.: 33 AF XY: 0.249 AC XY: 18556AN XY: 74408
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at