21-44990632-C-T
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000434081.1(LINC00163):n.1387G>A 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 0.477 in 152,230 control chromosomes in the GnomAD database, including 19,706 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
ENST00000434081.1 non_coding_transcript_exon
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
LINC00163 | NR_033840.1 | n.1387G>A | non_coding_transcript_exon_variant | Exon 2 of 2 |
Ensembl
Frequencies
GnomAD3 genomes AF: 0.477 AC: 72518AN: 152034Hom.: 19692 Cov.: 34 show subpopulations
GnomAD4 exome AF: 0.654 AC: 51AN: 78Hom.: 19 Cov.: 0 AF XY: 0.630 AC XY: 34AN XY: 54 show subpopulations
GnomAD4 genome AF: 0.477 AC: 72534AN: 152152Hom.: 19687 Cov.: 34 AF XY: 0.482 AC XY: 35874AN XY: 74358 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at