rs72558173
Variant summary
Our verdict is Likely benign. Variant got -2 ACMG points: 2P and 4B. PM2BP4_Strong
The NM_001384290.1(HLA-G):c.164C>T(p.Thr55Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000179 in 1,613,264 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar.
Frequency
Consequence
NM_001384290.1 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-G | NM_001384290.1 | c.164C>T | p.Thr55Met | missense_variant | 2/7 | ENST00000360323.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-G | ENST00000360323.11 | c.164C>T | p.Thr55Met | missense_variant | 2/7 | NM_001384290.1 | P2 | ||
HCG4P8 | ENST00000443049.1 | n.228G>A | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.00102 AC: 156AN: 152232Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.000255 AC: 63AN: 247116Hom.: 0 AF XY: 0.000178 AC XY: 24AN XY: 134522
GnomAD4 exome AF: 0.0000910 AC: 133AN: 1460914Hom.: 0 Cov.: 89 AF XY: 0.0000770 AC XY: 56AN XY: 726814
GnomAD4 genome ? AF: 0.00102 AC: 156AN: 152350Hom.: 0 Cov.: 34 AF XY: 0.000953 AC XY: 71AN XY: 74500
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at