chr6-31356825-T-G
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_005514.8(HLA-B):āc.206A>Cā(p.Glu69Ala) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000288 in 1,039,864 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. E69G) has been classified as Likely benign.
Frequency
Consequence
NM_005514.8 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-B | NM_005514.8 | c.206A>C | p.Glu69Ala | missense_variant | 2/8 | ENST00000412585.7 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-B | ENST00000412585.7 | c.206A>C | p.Glu69Ala | missense_variant | 2/8 | NM_005514.8 | P1 | ||
ENST00000603274.1 | n.179T>G | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 37850Hom.: 0 Cov.: 0 FAILED QC
GnomAD3 exomes AF: 0.0000148 AC: 2AN: 135230Hom.: 0 AF XY: 0.0000138 AC XY: 1AN XY: 72382
GnomAD4 exome AF: 0.00000288 AC: 3AN: 1039864Hom.: 0 Cov.: 27 AF XY: 0.00000387 AC XY: 2AN XY: 517144
GnomAD4 genome Data not reliable, filtered out with message: AC0;AS_VQSR AF: 0.00 AC: 0AN: 37850Hom.: 0 Cov.: 0 AF XY: 0.00 AC XY: 0AN XY: 17428
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at