rs36149991
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NR_001298.1(HLA-DRB6):n.740+78A>T variant causes a intron, non coding transcript change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000128 in 78,254 control chromosomes in the GnomAD database, with no homozygous occurrence. 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
NR_001298.1 intron, non_coding_transcript
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HLA-DRB6 | NR_001298.1 | n.740+78A>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-DRB6 | ENST00000411500.5 | n.740+78A>T | intron_variant, non_coding_transcript_variant | ||||||
HLA-DRB6 | ENST00000437650.2 | n.553+78A>T | intron_variant, non_coding_transcript_variant | ||||||
HLA-DRB6 | ENST00000437183.5 | n.831+7A>T | splice_region_variant, intron_variant, non_coding_transcript_variant |
Frequencies
GnomAD3 genomes ? AF: 0.0000128 AC: 1AN: 78174Hom.: 0 Cov.: 10
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000101 AC: 4AN: 397270Hom.: 1 Cov.: 5 AF XY: 0.00000479 AC XY: 1AN XY: 208842
GnomAD4 genome ? AF: 0.0000128 AC: 1AN: 78254Hom.: 0 Cov.: 10 AF XY: 0.0000264 AC XY: 1AN XY: 37856
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at