rs4404222
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_923517.3(LOC105373714):n.145+10268G>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 0.143 in 147,408 control chromosomes in the GnomAD database, including 2,166 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_923517.3 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 |
---|---|---|---|---|---|---|---|---|
LOC105373714 | XR_923517.3 | n.145+10268G>A | intron_variant, non_coding_transcript_variant | |||||
LOC105373714 | XR_923518.3 | n.133+10280G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
UPP2 | ENST00000605860.5 | c.-20+10268G>A | intron_variant | 5 | ENSP00000474090 |
Frequencies
GnomAD3 genomes AF: 0.143 AC: 21086AN: 147370Hom.: 2165 Cov.: 27
GnomAD4 genome AF: 0.143 AC: 21101AN: 147408Hom.: 2166 Cov.: 27 AF XY: 0.144 AC XY: 10338AN XY: 71590
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at