chr6-29829643-C-T
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001384290.1(HLA-G):c.845C>T(p.Thr282Met) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0598 in 1,613,874 control chromosomes in the GnomAD database, including 3,630 homozygotes. In-silico tool predicts a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Synonymous variant affecting the same amino acid position (i.e. T282T) has been classified as Likely benign.
Frequency
Consequence
NM_001384290.1 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-G | NM_001384290.1 | c.845C>T | p.Thr282Met | missense_variant | 4/7 | ENST00000360323.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-G | ENST00000360323.11 | c.845C>T | p.Thr282Met | missense_variant | 4/7 | NM_001384290.1 | P2 |
Frequencies
GnomAD3 genomes ? AF: 0.0440 AC: 6683AN: 151940Hom.: 217 Cov.: 30
GnomAD3 exomes AF: 0.0566 AC: 14216AN: 251030Hom.: 575 AF XY: 0.0623 AC XY: 8452AN XY: 135714
GnomAD4 exome AF: 0.0615 AC: 89856AN: 1461816Hom.: 3413 Cov.: 36 AF XY: 0.0642 AC XY: 46667AN XY: 727210
GnomAD4 genome ? AF: 0.0439 AC: 6676AN: 152058Hom.: 217 Cov.: 30 AF XY: 0.0447 AC XY: 3319AN XY: 74302
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at