6-32664882-C-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 0P and 2B. BP4_Moderate
The NM_002123.5(HLA-DQB1):āc.295G>Cā(p.Val99Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 12/18 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. V99D) has been classified as Likely benign.
Frequency
Consequence
NM_002123.5 missense
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-DQB1 | NM_002123.5 | c.295G>C | p.Val99Leu | missense_variant | 2/5 | ENST00000434651.7 | |
HLA-DQB1 | NM_001243961.2 | c.295G>C | p.Val99Leu | missense_variant | 2/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-DQB1 | ENST00000434651.7 | c.295G>C | p.Val99Leu | missense_variant | 2/5 | NM_002123.5 | P2 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 1AN: 118594Hom.: 0 Cov.: 20 FAILED QC
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0000326 AC: 35AN: 1074676Hom.: 0 Cov.: 28 AF XY: 0.0000257 AC XY: 14AN XY: 545048
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.00000843 AC: 1AN: 118670Hom.: 0 Cov.: 20 AF XY: 0.0000173 AC XY: 1AN XY: 57718
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at