rs528301
Variant summary
Our verdict is Benign. Variant got -10 ACMG points: 0P and 10B. BP4_ModerateBA1
The NR_147195.1(LINC01833):n.378-4190C>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 0.718 in 152,178 control chromosomes in the GnomAD database, including 40,960 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_147195.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -10 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LINC01833 | NR_147195.1 | n.378-4190C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01833 | ENST00000437916.2 | n.378-4190C>T | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC01833 | ENST00000432125.2 | n.366-4190C>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.718 AC: 109125AN: 152058Hom.: 40896 Cov.: 34
GnomAD4 exome AF: 1.00 AC: 2AN: 2Hom.: 1 AC XY: 0AN XY: 0
GnomAD4 genome ? AF: 0.718 AC: 109250AN: 152176Hom.: 40959 Cov.: 34 AF XY: 0.725 AC XY: 53969AN XY: 74390
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at