chr6-30830214-C-T
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000719502.1(LINC00243):n.374G>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 0.119 in 152,118 control chromosomes in the GnomAD database, including 1,127 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
ENST00000719502.1 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 |
---|---|---|---|---|---|---|---|---|
LINC00243 | NR_130726.1 | n.145+301G>A | intron_variant | Intron 1 of 1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
LINC00243 | ENST00000719502.1 | n.374G>A | non_coding_transcript_exon_variant | Exon 1 of 1 | ||||||
LINC00243 | ENST00000399196.1 | n.145+301G>A | intron_variant | Intron 1 of 1 | 2 | |||||
LINC00243 | ENST00000419357.7 | n.145+301G>A | intron_variant | Intron 1 of 1 | 3 |
Frequencies
GnomAD3 genomes AF: 0.119 AC: 18063AN: 152000Hom.: 1120 Cov.: 31 show subpopulations
GnomAD4 genome AF: 0.119 AC: 18085AN: 152118Hom.: 1127 Cov.: 31 AF XY: 0.120 AC XY: 8887AN XY: 74360 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at