rs2375971
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NR_149124.1(LINC02505):n.199-27743G>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 0.423 in 151,630 control chromosomes in the GnomAD database, including 13,619 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_149124.1 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 |
---|---|---|---|---|---|---|---|
LINC02505 | NR_149124.1 | n.199-27743G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02505 | ENST00000510597.6 | n.210-27743G>A | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC02505 | ENST00000505298.5 | n.367-27743G>A | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC02505 | ENST00000662117.1 | n.233-27743G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.423 AC: 64115AN: 151512Hom.: 13623 Cov.: 31
GnomAD4 genome ? AF: 0.423 AC: 64145AN: 151630Hom.: 13619 Cov.: 31 AF XY: 0.429 AC XY: 31763AN XY: 74114
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at