rs762555237
Variant summary
Our verdict is Likely benign. Variant got -3 ACMG points: 2P and 5B. PM2BP4_StrongBP7
The NM_000545.8(HNF1A):c.900C>A(p.Pro300=) variant causes a synonymous change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000069 in 1,449,298 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. Synonymous variant affecting the same amino acid position (i.e. P300P) has been classified as Likely benign.
Frequency
Consequence
NM_000545.8 synonymous
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -3 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HNF1A | NM_000545.8 | c.900C>A | p.Pro300= | synonymous_variant | 4/10 | ENST00000257555.11 | |
HNF1A | NM_001306179.2 | c.900C>A | p.Pro300= | synonymous_variant | 4/10 | ||
HNF1A | NM_001406915.1 | c.900C>A | p.Pro300= | synonymous_variant | 4/9 | ||
HNF1A | XM_024449168.2 | c.900C>A | p.Pro300= | synonymous_variant | 4/9 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HNF1A | ENST00000257555.11 | c.900C>A | p.Pro300= | synonymous_variant | 4/10 | 1 | NM_000545.8 | P4 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 6.90e-7 AC: 1AN: 1449298Hom.: 0 Cov.: 35 AF XY: 0.00000139 AC XY: 1AN XY: 719954
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at