17-37687325-A-T
Variant summary
Our verdict is Likely benign. Variant got -5 ACMG points: 0P and 5B. BP4BS2
The ENST00000613727.4(HNF1B):c.1329T>A(p.Phe443Leu) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.0000157 in 1,461,766 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 8/11 in silico tools predict a benign outcome for this variant. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar. Another nucleotide change resulting in same amino acid change has been previously reported as Benignin ClinVar.
Frequency
Consequence
ENST00000613727.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Likely_benign. Variant got -5 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HNF1B | NM_000458.4 | c.*47T>A | 3_prime_UTR_variant | 9/9 | ENST00000617811.5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HNF1B | ENST00000613727.4 | c.1329T>A | p.Phe443Leu | missense_variant | 7/7 | 1 | |||
HNF1B | ENST00000617811.5 | c.*47T>A | 3_prime_UTR_variant | 9/9 | 1 | NM_000458.4 | |||
HNF1B | ENST00000621123.4 | c.*47T>A | 3_prime_UTR_variant | 9/9 | 1 | P1 | |||
HNF1B | ENST00000614313.4 | c.1602T>A | p.Phe534Leu | missense_variant | 8/8 | 5 |
Frequencies
GnomAD3 genomes Cov.: 32
GnomAD4 exome AF: 0.0000157 AC: 23AN: 1461766Hom.: 0 Cov.: 32 AF XY: 0.0000179 AC XY: 13AN XY: 727174
GnomAD4 genome Cov.: 32
ClinVar
Not reported inComputational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at