chr17-42554745-G-A
Variant summary
Our verdict is Uncertain significance. Variant got 2 ACMG points: 2P and 0B. PM2
The NM_000413.4(HSD17B1):c.794G>A(p.Arg265Gln) variant causes a missense change involving the alteration of a non-conserved nucleotide. The variant allele was found at a frequency of 0.00000561 in 1,603,802 control chromosomes in the GnomAD database, with no homozygous occurrence. In-silico tool predicts a benign outcome for this variant. 13/21 in silico tools predict a benign outcome for this variant. Variant has been reported in ClinVar as Uncertain significance (★).
Frequency
Consequence
NM_000413.4 missense
Scores
Clinical Significance
Conservation
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ACMG classification
Verdict is Uncertain_significance. Variant got 2 ACMG points.
Transcripts
RefSeq
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | MANE | UniProt |
---|---|---|---|---|---|---|---|
HSD17B1 | NM_000413.4 | c.794G>A | p.Arg265Gln | missense_variant | 6/6 | ENST00000585807.6 | |
HSD17B1-AS1 | NR_144402.1 | n.58C>T | non_coding_transcript_exon_variant | 1/1 | |||
HSD17B1 | NM_001330219.3 | c.797G>A | p.Arg266Gln | missense_variant | 6/6 | ||
HSD17B1 | NR_144397.2 | n.711G>A | non_coding_transcript_exon_variant | 5/5 |
Ensembl
Gene | Transcript | HGVSc | HGVSp | Effect | #exon/exons | TSL | MANE | Appris | UniProt |
---|---|---|---|---|---|---|---|---|---|
HSD17B1 | ENST00000585807.6 | c.794G>A | p.Arg265Gln | missense_variant | 6/6 | 1 | NM_000413.4 | P4 | |
HSD17B1-AS1 | ENST00000590513.3 | n.97C>T | non_coding_transcript_exon_variant | 1/1 | |||||
HSD17B1 | ENST00000225929.5 | c.797G>A | p.Arg266Gln | missense_variant | 6/6 | 2 | A2 | ||
HSD17B1 | ENST00000590299.5 | c.*250G>A | 3_prime_UTR_variant, NMD_transcript_variant | 5/5 | 5 |
Frequencies
GnomAD3 genomes ? AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 34
GnomAD3 exomes AF: 0.00000426 AC: 1AN: 234850Hom.: 0 AF XY: 0.00000775 AC XY: 1AN XY: 129062
GnomAD4 exome AF: 0.00000551 AC: 8AN: 1451570Hom.: 0 Cov.: 31 AF XY: 0.00000692 AC XY: 5AN XY: 722682
GnomAD4 genome ? AF: 0.00000657 AC: 1AN: 152232Hom.: 0 Cov.: 34 AF XY: 0.00 AC XY: 0AN XY: 74382
ClinVar
Submissions by phenotype
not specified Uncertain:1
Uncertain significance, criteria provided, single submitter | clinical testing | Ambry Genetics | Oct 26, 2022 | The c.794G>A (p.R265Q) alteration is located in exon 6 (coding exon 6) of the HSD17B1 gene. This alteration results from a G to A substitution at nucleotide position 794, causing the arginine (R) at amino acid position 265 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. - |
Computational scores
Source:
Splicing
Find out detailed SpliceAI scores and Pangolin per-transcript scores at