15-73909588-T-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000685373.1(LOXL1-AS1):n.519-1040A>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 0.406 in 151,918 control chromosomes in the GnomAD database, including 14,183 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
ENST00000685373.1 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 |
---|---|---|---|---|---|---|---|
TBC1D21 | XM_011521281.4 | c.979-63T>G | intron_variant | ||||
TBC1D21 | XM_047432198.1 | c.871-63T>G | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LOXL1-AS1 | ENST00000685373.1 | n.519-1040A>C | intron_variant, non_coding_transcript_variant | ||||||
LOXL1-AS1 | ENST00000565689.5 | n.258-1040A>C | intron_variant, non_coding_transcript_variant | 3 | |||||
LOXL1-AS1 | ENST00000568229.5 | n.413-1040A>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes ? AF: 0.406 AC: 61665AN: 151800Hom.: 14184 Cov.: 31
GnomAD4 genome ? AF: 0.406 AC: 61681AN: 151918Hom.: 14183 Cov.: 31 AF XY: 0.402 AC XY: 29871AN XY: 74244
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at