9-12717406-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_125775.1(LURAP1L-AS1):n.317-16780C>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 0.43 in 151,974 control chromosomes in the GnomAD database, including 18,046 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
NR_125775.1 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 |
---|---|---|---|---|---|---|---|
LURAP1L-AS1 | NR_125775.1 | n.317-16780C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LURAP1L-AS1 | ENST00000417638.1 | n.273-16780C>T | intron_variant, non_coding_transcript_variant | 3 | |||||
LURAP1L-AS1 | ENST00000650458.1 | n.193-18051C>T | intron_variant, non_coding_transcript_variant | ||||||
LURAP1L-AS1 | ENST00000654076.1 | n.159-16780C>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.430 AC: 65373AN: 151854Hom.: 18044 Cov.: 32
GnomAD4 genome AF: 0.430 AC: 65382AN: 151974Hom.: 18046 Cov.: 32 AF XY: 0.423 AC XY: 31398AN XY: 74268
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at