6-31356424-C-G
Variant summary
Our verdict is Likely benign. The variant received -4 ACMG points: 0P and 4B. BP4_Strong
The NM_005514.8(HLA-B):c.362G>C(p.Ser121Thr) variant causes a missense change involving the alteration of a non-conserved nucleotide. In-silico tool predicts a benign outcome for this variant. 13/19 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. S121R) has been classified as Benign.
Frequency
Consequence
NM_005514.8 missense
Scores
Clinical Significance
Conservation
Publications
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ACMG classification
Our verdict: Likely_benign. The variant received -4 ACMG points.
Transcripts
RefSeq
Ensembl
Frequencies
GnomAD3 genomes AF: 0.0113 AC: 498AN: 44240Hom.: 36 Cov.: 4 show subpopulations
GnomAD2 exomes AF: 0.0664 AC: 12126AN: 182648 AF XY: 0.0724 show subpopulations
GnomAD4 exome Data not reliable, filtered out with message: AS_VQSR AF: 0.0272 AC: 23382AN: 860730Hom.: 1487 Cov.: 14 AF XY: 0.0327 AC XY: 13956AN XY: 426808 show subpopulations
GnomAD4 genome Data not reliable, filtered out with message: AS_VQSR AF: 0.0113 AC: 500AN: 44258Hom.: 36 Cov.: 4 AF XY: 0.00976 AC XY: 204AN XY: 20898 show subpopulations
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at