rs261926
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The XR_001749045.2(LINC02955):n.321+8468A>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 0.0000263 in 151,852 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
XR_001749045.2 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
LINC02955 | XR_001749045.2 | n.321+8468A>C | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02955 | ENST00000413794.6 | n.236+17114A>C | intron_variant, non_coding_transcript_variant | 4 | |||||
LINC02955 | ENST00000536744.5 | n.154+17114A>C | intron_variant, non_coding_transcript_variant | 2 | |||||
LINC02955 | ENST00000628326.1 | n.68-6734A>C | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC02955 | ENST00000629824.2 | n.226+8468A>C | intron_variant, non_coding_transcript_variant | 5 |
Frequencies
GnomAD3 genomes AF: 0.0000263 AC: 4AN: 151852Hom.: 0 Cov.: 33
GnomAD4 genome AF: 0.0000263 AC: 4AN: 151852Hom.: 0 Cov.: 33 AF XY: 0.0000270 AC XY: 2AN XY: 74152
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at