3-46164194-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_940805.3(LOC105377067):n.389+332C>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 0.621 in 151,864 control chromosomes in the GnomAD database, including 29,714 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_940805.3 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 |
---|---|---|---|---|---|---|---|---|
LOC105377067 | XR_940805.3 | n.389+332C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
CCR3 | ENST00000357422.2 | c.-285+332C>T | intron_variant | 2 | ENSP00000350003 | P1 | ||||
CCR3 | ENST00000682778.1 | n.647+332C>T | intron_variant, non_coding_transcript_variant | |||||||
CCR3 | ENST00000684109.1 | n.692-24738C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.621 AC: 94227AN: 151746Hom.: 29686 Cov.: 30
GnomAD4 genome AF: 0.621 AC: 94281AN: 151864Hom.: 29714 Cov.: 30 AF XY: 0.620 AC XY: 46031AN XY: 74232
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at