rs707956
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002125.4(HLA-DRB5):c.196G>T(p.Asp66Tyr) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 14/20 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. D66N) has been classified as Benign.
Frequency
Consequence
NM_002125.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Benign. Variant got -12 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HLA-DRB5 | NM_002125.4 | c.196G>T | p.Asp66Tyr | missense_variant | 2/6 | ENST00000374975.4 | |
HLA-DRB5 | XM_011514562.3 | c.196G>T | p.Asp66Tyr | missense_variant | 2/6 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-DRB5 | ENST00000374975.4 | c.196G>T | p.Asp66Tyr | missense_variant | 2/6 | NM_002125.4 | P1 |
Frequencies
GnomAD3 genomes ? AF: 0.734 AC: 63610AN: 86656Hom.: 24834 Cov.: 13
GnomAD3 exomes AF: 0.0861 AC: 6707AN: 77858Hom.: 2762 AF XY: 0.0800 AC XY: 3409AN XY: 42600
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.817 AC: 900695AN: 1102176Hom.: 394091 Cov.: 31 AF XY: 0.816 AC XY: 449526AN XY: 551010
GnomAD4 genome ? AF: 0.734 AC: 63644AN: 86706Hom.: 24851 Cov.: 13 AF XY: 0.724 AC XY: 29896AN XY: 41268
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at