chr6-29828529-G-A
Variant summary
Our verdict is Benign. Variant got -12 ACMG points: 0P and 12B. BP4_StrongBA1
The NM_001384290.1(HLA-G):c.344-14G>A variant causes a splice polypyrimidine tract, intron change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.483 in 1,608,644 control chromosomes in the GnomAD database, including 192,152 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.
Frequency
Consequence
NM_001384290.1 splice_polypyrimidine_tract, intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
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.344-14G>A | splice_polypyrimidine_tract_variant, intron_variant | ENST00000360323.11 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HLA-G | ENST00000360323.11 | c.344-14G>A | splice_polypyrimidine_tract_variant, intron_variant | NM_001384290.1 | P2 |
Frequencies
GnomAD3 genomes AF: 0.485 AC: 73519AN: 151654Hom.: 18050 Cov.: 31
GnomAD3 exomes AF: 0.499 AC: 121266AN: 243216Hom.: 31645 AF XY: 0.508 AC XY: 67431AN XY: 132818
GnomAD4 exome AF: 0.483 AC: 703283AN: 1456872Hom.: 174078 Cov.: 54 AF XY: 0.490 AC XY: 354630AN XY: 724190
GnomAD4 genome AF: 0.485 AC: 73583AN: 151772Hom.: 18074 Cov.: 31 AF XY: 0.485 AC XY: 35945AN XY: 74156
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at