rs2716040
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000662064.1(LINC02715):n.304-5924A>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 0.0825 in 152,246 control chromosomes in the GnomAD database, including 580 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.304-5924A>T | intron_variant, non_coding_transcript_variant | ||||||
LINC02715 | ENST00000534252.2 | n.543-1024A>T | intron_variant, non_coding_transcript_variant | 3 | |||||
LINC02715 | ENST00000667432.1 | n.414-5924A>T | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0826 AC: 12559AN: 152128Hom.: 579 Cov.: 32
GnomAD4 genome AF: 0.0825 AC: 12565AN: 152246Hom.: 580 Cov.: 32 AF XY: 0.0796 AC XY: 5924AN XY: 74446
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at