rs17201113
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000568524.5(LINC02911):n.197+994A>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 0.0193 in 459,272 control chromosomes in the GnomAD database, including 133 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
ENST00000568524.5 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 |
---|---|---|---|---|---|---|---|
LINC02911 | XR_007065207.1 | n.185+994A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02911 | ENST00000568524.5 | n.197+994A>T | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC02911 | ENST00000622950.3 | n.4A>T | non_coding_transcript_exon_variant | 1/6 | 2 | ||||
LINC02911 | ENST00000566628.2 | n.59+994A>T | intron_variant, non_coding_transcript_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0173 AC: 2626AN: 152142Hom.: 35 Cov.: 33
GnomAD3 exomes AF: 0.0192 AC: 2449AN: 127442Hom.: 35 AF XY: 0.0193 AC XY: 1345AN XY: 69790
GnomAD4 exome AF: 0.0203 AC: 6239AN: 307012Hom.: 98 Cov.: 1 AF XY: 0.0202 AC XY: 3532AN XY: 174584
GnomAD4 genome ? AF: 0.0172 AC: 2622AN: 152260Hom.: 35 Cov.: 33 AF XY: 0.0162 AC XY: 1209AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at