X-48638775-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_001755842.2(LOC107985695):n.3093C>T 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 0.411 in 110,319 control chromosomes in the GnomAD database, including 7,299 homozygotes. There are 12,894 hemizygotes in GnomAD. 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_001755842.2 non_coding_transcript_exon
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 |
---|---|---|---|---|---|---|---|---|
LOC107985695 | XR_001755842.2 | n.3093C>T | non_coding_transcript_exon_variant | 3/3 | ||||
LOC107985695 | XR_007068227.1 | n.3089C>T | non_coding_transcript_exon_variant | 3/3 | ||||
use as main transcript | n.48638775C>T | intergenic_region |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.411 AC: 45291AN: 110263Hom.: 7292 Cov.: 22 AF XY: 0.395 AC XY: 12852AN XY: 32535
GnomAD4 genome AF: 0.411 AC: 45344AN: 110319Hom.: 7299 Cov.: 22 AF XY: 0.396 AC XY: 12894AN XY: 32599
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at