chr11-109751428-T-C
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000662064.1(LINC02715):n.304-4809A>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 0.395 in 152,046 control chromosomes in the GnomAD database, including 16,854 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
ENST00000662064.1 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 |
---|
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC02715 | ENST00000662064.1 | n.304-4809A>G | intron_variant, non_coding_transcript_variant | ||||||
LINC02715 | ENST00000667432.1 | n.414-4809A>G | intron_variant, non_coding_transcript_variant | ||||||
LINC02715 | ENST00000534252.2 | downstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes AF: 0.395 AC: 59943AN: 151924Hom.: 16809 Cov.: 32
GnomAD4 exome AF: 0.500 AC: 1AN: 2Hom.: 0 Cov.: 0 AF XY: 0.500 AC XY: 1AN XY: 2
GnomAD4 genome AF: 0.395 AC: 60048AN: 152044Hom.: 16854 Cov.: 32 AF XY: 0.386 AC XY: 28713AN XY: 74328
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at