rs546252382
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4_StrongBS2_Supporting
The NM_175914.5(HNF4A):c.-44C>G variant causes a 5 prime UTR change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000552 in 1,448,850 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_175914.5 5_prime_UTR
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HNF4A | ENST00000316673 | c.-44C>G | 5_prime_UTR_variant | Exon 1 of 10 | 1 | NM_175914.5 | ENSP00000315180.4 | |||
HNF4A | ENST00000457232.5 | c.-44C>G | upstream_gene_variant | 1 | ENSP00000396216.1 | |||||
HNF4A | ENST00000609795.5 | c.-44C>G | upstream_gene_variant | 1 | ENSP00000476609.1 | |||||
HNF4A | ENST00000609262.5 | c.-275C>G | upstream_gene_variant | 1 | ENSP00000476310.1 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD3 exomes AF: 0.0000205 AC: 5AN: 243560Hom.: 0 AF XY: 0.0000150 AC XY: 2AN XY: 132980
GnomAD4 exome AF: 0.00000552 AC: 8AN: 1448850Hom.: 0 Cov.: 29 AF XY: 0.00000416 AC XY: 3AN XY: 721378
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at