rs2298321
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000519691.1(ENSG00000254290):n.1073C>T variant causes a non coding transcript exon change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0922 in 268,786 control chromosomes in the GnomAD database, including 1,439 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
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 |
---|---|---|---|---|---|---|---|
LINC01605 | NR_170186.1 | n.779+275C>T | intron_variant, non_coding_transcript_variant | ||||
LINC01605 | NR_170187.1 | n.779+275C>T | intron_variant, non_coding_transcript_variant | ||||
LINC01605 | NR_170188.1 | n.779+275C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
ENST00000519691.1 | n.1073C>T | non_coding_transcript_exon_variant | 1/1 | ||||||
ENST00000522471.1 | upstream_gene_variant | 3 |
Frequencies
GnomAD3 genomes ? AF: 0.0830 AC: 12619AN: 152108Hom.: 682 Cov.: 32
GnomAD4 exome AF: 0.104 AC: 12167AN: 116560Hom.: 756 Cov.: 0 AF XY: 0.110 AC XY: 6915AN XY: 63026
GnomAD4 genome ? AF: 0.0829 AC: 12613AN: 152226Hom.: 683 Cov.: 32 AF XY: 0.0858 AC XY: 6386AN XY: 74432
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at