rs10874241
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000473719.5(ADGRL2):n.351-22101G>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 0.942 in 152,274 control chromosomes in the GnomAD database, including 67,967 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
ENST00000473719.5 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 |
---|---|---|---|---|---|---|---|
ADGRL2 | NM_001366003.2 | c.-378-22101G>A | intron_variant | ||||
ADGRL2 | NM_001366004.2 | c.-379+8569G>A | intron_variant | ||||
ADGRL2 | NM_001366008.2 | c.-316-22101G>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ADGRL2 | ENST00000473719.5 | n.351-22101G>A | intron_variant, non_coding_transcript_variant | 1 | |||||
ADGRL2 | ENST00000370721.5 | c.-301-22116G>A | intron_variant | 5 | |||||
ADGRL2 | ENST00000370723.5 | c.-301-22116G>A | intron_variant | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.942 AC: 143360AN: 152156Hom.: 67923 Cov.: 33
GnomAD4 genome ? AF: 0.942 AC: 143458AN: 152274Hom.: 67967 Cov.: 33 AF XY: 0.944 AC XY: 70257AN XY: 74460
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at