rs193922580
Variant summary
Our verdict is Uncertain significance. Variant got 0 ACMG points: 0P and 0B.
The NM_000545.8(HNF1A):c.1424C>A(p.Pro475Gln) variant causes a missense change. The variant allele was found at a frequency of 0.0000062 in 1,613,720 control chromosomes in the GnomAD database, with no homozygous occurrence. 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. P475L) has been classified as Uncertain significance.
Frequency
Consequence
NM_000545.8 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 0 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HNF1A | NM_000545.8 | c.1424C>A | p.Pro475Gln | missense_variant | 7/10 | ENST00000257555.11 | |
HNF1A | NM_001306179.2 | c.1424C>A | p.Pro475Gln | missense_variant | 7/10 | ||
HNF1A | XM_024449168.2 | c.1424C>A | p.Pro475Gln | missense_variant | 7/9 | ||
HNF1A | NM_001406915.1 | c.1309+846C>A | intron_variant |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HNF1A | ENST00000257555.11 | c.1424C>A | p.Pro475Gln | missense_variant | 7/10 | 1 | NM_000545.8 | P4 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 33
GnomAD3 exomes AF: 0.0000120 AC: 3AN: 249896Hom.: 0 AF XY: 0.00000739 AC XY: 1AN XY: 135316
GnomAD4 exome AF: 0.00000616 AC: 9AN: 1461498Hom.: 0 Cov.: 38 AF XY: 0.00000688 AC XY: 5AN XY: 727078
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152222Hom.: 0 Cov.: 33 AF XY: 0.00 AC XY: 0AN XY: 74370
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at