ENST00000850441.1:n.683G>C
Variant summary
Our verdict is Benign. The variant received -12 ACMG points: 0P and 12B. BP4_StrongBA1
The ENST00000850441.1(ENSG00000310496):n.683G>C 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 0.295 in 146,398 control chromosomes in the GnomAD database, including 9,615 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
ENST00000850441.1 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 |
---|---|---|---|---|---|---|---|---|
HLA-K | n.29929635G>C | intragenic_variant | ||||||
LOC124901298 | XR_007059541.1 | n.814-898C>G | intron_variant | Intron 1 of 2 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
ENSG00000310496 | ENST00000850441.1 | n.683G>C | non_coding_transcript_exon_variant | Exon 5 of 5 | ||||||
ENSG00000310496 | ENST00000850442.1 | n.622G>C | non_coding_transcript_exon_variant | Exon 5 of 5 | ||||||
ENSG00000310496 | ENST00000850443.1 | n.1370G>C | non_coding_transcript_exon_variant | Exon 8 of 8 |
Frequencies
GnomAD3 genomes AF: 0.295 AC: 43084AN: 146288Hom.: 9598 Cov.: 30 show subpopulations
GnomAD4 genome AF: 0.295 AC: 43147AN: 146398Hom.: 9615 Cov.: 30 AF XY: 0.291 AC XY: 20746AN XY: 71394 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at