chr15-101613601-A-G
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000618724.3(LINC02348):n.608T>C variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.463 in 152,094 control chromosomes in the GnomAD database, including 16,812 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
ENST00000618724.3 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
Genome browser will be placed here
ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LINC02348 | NR_147041.1 | n.564T>C | non_coding_transcript_exon_variant | Exon 2 of 3 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC02348 | ENST00000618724.3 | n.608T>C | non_coding_transcript_exon_variant | Exon 2 of 3 | 4 | |||||
LINC02348 | ENST00000655738.1 | n.756T>C | non_coding_transcript_exon_variant | Exon 2 of 3 | ||||||
LINC02348 | ENST00000740832.1 | n.189+2407T>C | intron_variant | Intron 1 of 1 |
Frequencies
GnomAD3 genomes AF: 0.463 AC: 70305AN: 151838Hom.: 16773 Cov.: 32 show subpopulations
GnomAD4 exome AF: 0.471 AC: 65AN: 138Hom.: 14 AF XY: 0.480 AC XY: 49AN XY: 102 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.463 AC: 70373AN: 151956Hom.: 16798 Cov.: 32 AF XY: 0.460 AC XY: 34135AN XY: 74258 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at