rs1131118
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_002117.6(HLA-C):c.361A>T(p.Arg121Trp) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/18 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 nucleotide change resulting in same amino acid change has been previously reported as Likely benignin UniProt.
Frequency
Consequence
NM_002117.6 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 | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HLA-C | NM_002117.6 | c.361A>T | p.Arg121Trp | missense_variant | 3/8 | ENST00000376228.10 | NP_002108.4 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HLA-C | ENST00000376228.10 | c.361A>T | p.Arg121Trp | missense_variant | 3/8 | 6 | NM_002117.6 | ENSP00000365402.5 |
Frequencies
GnomAD3 genomes AF: 0.0470 AC: 2593AN: 55198Hom.: 377 Cov.: 5
GnomAD3 exomes AF: 0.249 AC: 58162AN: 233900Hom.: 6639 AF XY: 0.252 AC XY: 32338AN XY: 128176
GnomAD4 exome AF: 0.173 AC: 138543AN: 801260Hom.: 43773 Cov.: 20 AF XY: 0.183 AC XY: 73945AN XY: 404564
GnomAD4 genome AF: 0.0472 AC: 2609AN: 55244Hom.: 382 Cov.: 5 AF XY: 0.0464 AC XY: 1226AN XY: 26416
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at