6-30489955-T-C
Variant summary
Our verdict is Benign. The variant received -13 ACMG points: 0P and 13B. BP4_StrongBP7BA1
The NM_005516.6(HLA-E):c.294T>C(p.Asn98Asn) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.685 in 1,611,200 control chromosomes in the GnomAD database, including 380,148 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
NM_005516.6 synonymous
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Benign. The variant received -13 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HLA-E | ENST00000376630.5 | c.294T>C | p.Asn98Asn | synonymous_variant | Exon 2 of 8 | 6 | NM_005516.6 | ENSP00000365817.4 | ||
HLA-E | ENST00000484194.1 | n.316T>C | non_coding_transcript_exon_variant | Exon 2 of 2 | 6 | |||||
HLA-E | ENST00000493699.1 | n.444T>C | non_coding_transcript_exon_variant | Exon 1 of 3 | 6 |
Frequencies
GnomAD3 genomes AF: 0.698 AC: 105910AN: 151808Hom.: 37108 Cov.: 30 show subpopulations
GnomAD2 exomes AF: 0.703 AC: 172639AN: 245680 AF XY: 0.707 show subpopulations
GnomAD4 exome AF: 0.684 AC: 997762AN: 1459274Hom.: 343005 Cov.: 52 AF XY: 0.688 AC XY: 499391AN XY: 725808 show subpopulations
Age Distribution
GnomAD4 genome AF: 0.698 AC: 106004AN: 151926Hom.: 37143 Cov.: 30 AF XY: 0.698 AC XY: 51801AN XY: 74252 show subpopulations
Age Distribution
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at