rs9288111
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The XR_923661.1(LOC105373781):n.363+2504G>C 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 0.325 in 151,042 control chromosomes in the GnomAD database, including 8,304 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_923661.1 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 |
---|---|---|---|---|---|---|---|
LOC105373781 | XR_923661.1 | n.363+2504G>C | intron_variant, non_coding_transcript_variant | ||||
LOC105373781 | XR_923662.1 | n.333+2504G>C | intron_variant, non_coding_transcript_variant | ||||
LOC105373781 | XR_923663.1 | n.215-20385G>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|
Frequencies
GnomAD3 genomes ? AF: 0.325 AC: 48998AN: 150926Hom.: 8282 Cov.: 32
GnomAD4 genome ? AF: 0.325 AC: 49055AN: 151042Hom.: 8304 Cov.: 32 AF XY: 0.326 AC XY: 24031AN XY: 73768
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at