NM_000458.4:c.226G>A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000458.4(HNF1B):c.226G>A(p.Gly76Ser) variant causes a missense change involving the alteration of a conserved nucleotide. The variant was absent in control chromosomes in GnomAD project. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another variant affecting the same amino acid position, but resulting in a different missense (i.e. G76C) has been classified as Likely benign.
Frequency
Consequence
NM_000458.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | Exon rank | TSL | MANE | Protein | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|---|
HNF1B | ENST00000617811.5 | c.226G>A | p.Gly76Ser | missense_variant | Exon 1 of 9 | 1 | NM_000458.4 | ENSP00000480291.1 | ||
HNF1B | ENST00000621123.4 | c.226G>A | p.Gly76Ser | missense_variant | Exon 1 of 9 | 1 | ENSP00000482711.1 | |||
HNF1B | ENST00000613727.4 | c.226G>A | p.Gly76Ser | missense_variant | Exon 1 of 7 | 1 | ENSP00000477524.1 | |||
HNF1B | ENST00000614313.4 | c.226G>A | p.Gly76Ser | missense_variant | Exon 1 of 8 | 5 | ENSP00000482529.1 |
Frequencies
GnomAD3 genomes Cov.: 33
GnomAD4 exome Cov.: 35
GnomAD4 genome Cov.: 33
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at