6-29827880-G-C
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_001384290.1(HLA-G):c.36G>C(p.Leu12=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.000000684 in 1,460,988 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 synonymous
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HLA-G | NM_001384290.1 | c.36G>C | p.Leu12= | synonymous_variant | 1/7 | ENST00000360323.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-G | ENST00000360323.11 | c.36G>C | p.Leu12= | synonymous_variant | 1/7 | NM_001384290.1 | P2 | ||
HCG4P8 | ENST00000443049.1 | n.485C>G | non_coding_transcript_exon_variant | 1/1 |
Frequencies
GnomAD3 genomes ? AF: 0.00 AC: 1AN: 151572Hom.: 0 Cov.: 30 FAILED QC
GnomAD4 exome AF: 6.84e-7 AC: 1AN: 1460988Hom.: 0 Cov.: 47 AF XY: 0.00000138 AC XY: 1AN XY: 726806
GnomAD4 genome ? Data not reliable, filtered out with message: AS_VQSR AF: 0.00000660 AC: 1AN: 151572Hom.: 0 Cov.: 30 AF XY: 0.0000135 AC XY: 1AN XY: 73980
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at