rs6716455
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000665690.1(LINC01818):n.200+55477G>A 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 0.117 in 152,198 control chromosomes in the GnomAD database, including 1,268 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
ENST00000665690.1 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 |
---|---|---|---|---|---|---|---|
LINC01818 | XR_923469.3 | n.249+55477G>A | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01818 | ENST00000665690.1 | n.200+55477G>A | intron_variant, non_coding_transcript_variant | ||||||
LINC01818 | ENST00000437118.1 | n.261-31084G>A | intron_variant, non_coding_transcript_variant | 2 | |||||
LINC01818 | ENST00000659082.1 | n.245+55477G>A | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.117 AC: 17765AN: 152080Hom.: 1268 Cov.: 33
GnomAD4 genome AF: 0.117 AC: 17765AN: 152198Hom.: 1268 Cov.: 33 AF XY: 0.118 AC XY: 8784AN XY: 74380
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at