rs3911862
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000606978.5(LINC02934):n.455+49385A>G 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 0.501 in 152,070 control chromosomes in the GnomAD database, including 19,696 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
ENST00000606978.5 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02934 | ENST00000606978.5 | n.455+49385A>G | intron_variant, non_coding_transcript_variant | 5 | |||||
LINC02934 | ENST00000377977.3 | n.862+31390A>G | intron_variant, non_coding_transcript_variant | 2 | |||||
LINC02934 | ENST00000661422.1 | n.2253-18715A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.501 AC: 76157AN: 151952Hom.: 19696 Cov.: 32
GnomAD4 genome ? AF: 0.501 AC: 76166AN: 152070Hom.: 19696 Cov.: 32 AF XY: 0.506 AC XY: 37645AN XY: 74342
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at