12-120978493-A-G
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 2P and 2B. PM2BP4_Moderate
The ENST00000433033.3(HNF1A-AS1):n.134+1121T>C variant causes a intron change. The variant allele was found at a frequency of 0.00000572 in 524,278 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
ENST00000433033.3 intron
Scores
Clinical Significance
Conservation
Genome browser will be placed here
ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | MANE | Protein | UniProt |
---|---|---|---|---|---|---|---|---|
HNF1A | NM_000545.8 | c.-276A>G | upstream_gene_variant | ENST00000257555.11 | NP_000536.6 | |||
HNF1A | NM_001306179.2 | c.-276A>G | upstream_gene_variant | NP_001293108.2 | ||||
HNF1A | NM_001406915.1 | c.-276A>G | upstream_gene_variant | NP_001393844.1 | ||||
HNF1A | XM_024449168.2 | c.-276A>G | upstream_gene_variant | XP_024304936.1 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HNF1A | ENST00000257555.11 | c.-276A>G | upstream_gene_variant | 1 | NM_000545.8 | ENSP00000257555.5 |
Frequencies
GnomAD3 genomes AF: 0.0000131 AC: 2AN: 152130Hom.: 0 Cov.: 32
GnomAD4 exome AF: 0.00000269 AC: 1AN: 372148Hom.: 0 Cov.: 0 AF XY: 0.00000508 AC XY: 1AN XY: 196674
GnomAD4 genome AF: 0.0000131 AC: 2AN: 152130Hom.: 0 Cov.: 32 AF XY: 0.00 AC XY: 0AN XY: 74320
ClinVar
Submissions by phenotype
not provided Uncertain:1
Located in 5' regulatory region; Has not been previously published as pathogenic or benign to our knowledge; No data available from control populations to assess the frequency of this variant -
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at