rs4830841
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_146309.1(LINC02154):n.133+13708T>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 0.526 in 111,056 control chromosomes in the GnomAD database, including 12,544 homozygotes. There are 17,423 hemizygotes in GnomAD. 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_146309.1 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 |
---|---|---|---|---|---|---|---|
LINC02154 | NR_146309.1 | n.133+13708T>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02154 | ENST00000670053.2 | n.126+13708T>C | intron_variant, non_coding_transcript_variant | ||||||
LINC02154 | ENST00000412485.2 | n.91-2048T>C | intron_variant, non_coding_transcript_variant | 2 | |||||
LINC02154 | ENST00000443965.1 | n.133+13708T>C | intron_variant, non_coding_transcript_variant | 2 |
Frequencies
GnomAD3 genomes AF: 0.526 AC: 58336AN: 111001Hom.: 12525 Cov.: 23 AF XY: 0.523 AC XY: 17362AN XY: 33225
GnomAD4 genome AF: 0.526 AC: 58413AN: 111056Hom.: 12544 Cov.: 23 AF XY: 0.523 AC XY: 17423AN XY: 33290
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at