rs10143250
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_146612.1(LINC02691):n.234-30390C>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 0.482 in 152,064 control chromosomes in the GnomAD database, including 18,991 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_146612.1 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 |
---|---|---|---|---|---|---|---|
LINC02691 | NR_146612.1 | n.234-30390C>T | intron_variant, non_coding_transcript_variant | ||||
LINC02691 | NR_146613.1 | n.234-18248C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02691 | ENST00000553757.1 | n.234-30390C>T | intron_variant, non_coding_transcript_variant | 4 | |||||
LINC02691 | ENST00000556528.1 | n.224-18248C>T | intron_variant, non_coding_transcript_variant | 4 |
Frequencies
GnomAD3 genomes ? AF: 0.482 AC: 73301AN: 151946Hom.: 18990 Cov.: 32
GnomAD4 genome ? AF: 0.482 AC: 73329AN: 152064Hom.: 18991 Cov.: 32 AF XY: 0.482 AC XY: 35834AN XY: 74332
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at