6-29942772-G-A
Variant summary
Our verdict is Likely benign. Variant got -1 ACMG points: 2P and 3B. PM2BP4_ModerateBP6
The NM_002116.8(HLA-A):c.89G>A(p.Arg30Lys) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000186 in 1,078,074 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 14/20 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Likely benign (no stars).
Frequency
Consequence
NM_002116.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -1 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HLA-A | NM_002116.8 | c.89G>A | p.Arg30Lys | missense_variant | 2/8 | ENST00000376809.10 | |
LOC124901298 | XR_007059541.1 | n.813+2009C>T | intron_variant, non_coding_transcript_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-A | ENST00000376809.10 | c.89G>A | p.Arg30Lys | missense_variant | 2/8 | NM_002116.8 | P3 | ||
ENST00000429656.1 | n.296C>T | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes AF: 0.00 AC: 0AN: 104162Hom.: 0 Cov.: 15 FAILED QC
GnomAD3 exomes AF: 0.000157 AC: 38AN: 242696Hom.: 0 AF XY: 0.000121 AC XY: 16AN XY: 132180
GnomAD4 exome AF: 0.00000186 AC: 2AN: 1078074Hom.: 0 Cov.: 30 AF XY: 0.00000185 AC XY: 1AN XY: 539548
GnomAD4 genome Data not reliable, filtered out with message: AC0 AF: 0.00 AC: 0AN: 104162Hom.: 0 Cov.: 15 AF XY: 0.00 AC XY: 0AN XY: 50088
ClinVar
Submissions by phenotype
EBV-positive nodal T- and NK-cell lymphoma Benign:1
Likely benign, no assertion criteria provided | research | Department of Clinical Pathology, School of Medicine, Fujita Health University | - | - - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at