rs275454
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_146281.1(LINC02236):n.467-10743G>A 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 0.393 in 152,044 control chromosomes in the GnomAD database, including 12,079 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_146281.1 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 |
---|---|---|---|---|---|---|---|
LINC02236 | NR_146281.1 | n.467-10743G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02236 | ENST00000691419.1 | n.715-10743G>A | intron_variant, non_coding_transcript_variant | ||||||
LINC02236 | ENST00000508881.1 | n.467-10743G>A | intron_variant, non_coding_transcript_variant | 4 | |||||
LINC02236 | ENST00000648399.1 | n.498-10743G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.393 AC: 59651AN: 151926Hom.: 12069 Cov.: 32
GnomAD4 genome ? AF: 0.393 AC: 59704AN: 152044Hom.: 12079 Cov.: 32 AF XY: 0.388 AC XY: 28862AN XY: 74328
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at