chr20-52658626-A-G
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000666751.1(LINC01524):n.642-8093A>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 0.0905 in 152,146 control chromosomes in the GnomAD database, including 1,211 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
ENST00000666751.1 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 |
---|---|---|---|---|---|---|---|
LOC105372666 | XR_007067652.1 | n.931-10522A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105372666 | XR_001754670.2 | n.894-10522A>G | intron_variant, non_coding_transcript_variant | ||||
LOC105372666 | XR_007067653.1 | n.257-10522A>G | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
LINC01524 | ENST00000666751.1 | n.642-8093A>G | intron_variant, non_coding_transcript_variant | ||||||
LINC01524 | ENST00000656362.1 | n.722-10522A>G | intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes AF: 0.0901 AC: 13693AN: 152028Hom.: 1191 Cov.: 32
GnomAD4 genome AF: 0.0905 AC: 13764AN: 152146Hom.: 1211 Cov.: 32 AF XY: 0.0896 AC XY: 6665AN XY: 74382
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at