chr18-51352352-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000582689.5(LINC01630):n.130+5974A>G 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 0.777 in 152,162 control chromosomes in the GnomAD database, including 47,470 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
ENST00000582689.5 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01630 | ENST00000582689.5 | n.130+5974A>G | intron_variant, non_coding_transcript_variant | 4 | |||||
LINC01630 | ENST00000635503.2 | n.130+5974A>G | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC01630 | ENST00000662191.1 | n.104+5974A>G | intron_variant, non_coding_transcript_variant | ||||||
LINC01630 | ENST00000666962.1 | n.65+5974A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.777 AC: 118202AN: 152044Hom.: 47457 Cov.: 32
GnomAD4 genome ? AF: 0.777 AC: 118250AN: 152162Hom.: 47470 Cov.: 32 AF XY: 0.774 AC XY: 57555AN XY: 74406
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at