rs3909378
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBS1BS2
The XR_007058983.1(LOC105378211):n.60-21474C>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 0.0106 in 152,204 control chromosomes in the GnomAD database, including 15 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_007058983.1 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 |
---|---|---|---|---|---|---|---|
LOC105378211 | XR_007058983.1 | n.60-21474C>T | intron_variant, non_coding_transcript_variant | ||||
LOC105378211 | XR_001742911.2 | n.60-21474C>T | intron_variant, non_coding_transcript_variant | ||||
PRELID2 | XR_007058586.1 | n.751+15673G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes AF: 0.0105 AC: 1593AN: 152086Hom.: 12 Cov.: 32
GnomAD4 genome AF: 0.0106 AC: 1610AN: 152204Hom.: 15 Cov.: 32 AF XY: 0.0103 AC XY: 767AN XY: 74398
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at