HSD17B14
Basic information
Region (hg38): 19:48813018-48836510
Previous symbols: [ "DHRS10" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the HSD17B14 gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
| Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 13 | 14 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 1 | 1 | ||||
| non coding | 0 | |||||
| Total | 0 | 0 | 13 | 1 | 0 |
Variants in HSD17B14
This is a list of pathogenic ClinVar variants found in the HSD17B14 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 19-48813200-A-G | not specified | Uncertain significance (Nov 14, 2023) | ||
| 19-48813212-C-T | not specified | Uncertain significance (Dec 13, 2023) | ||
| 19-48813213-G-A | not specified | Uncertain significance (Feb 05, 2025) | ||
| 19-48813260-A-C | not specified | Uncertain significance (Aug 28, 2024) | ||
| 19-48813288-C-T | High myopia • not specified | Uncertain significance (Feb 01, 2025) | ||
| 19-48813552-A-G | not specified | Likely benign (Nov 25, 2024) | ||
| 19-48813690-T-C | not specified | Uncertain significance (Mar 29, 2023) | ||
| 19-48815050-T-C | not specified | Uncertain significance (Aug 10, 2024) | ||
| 19-48831703-C-T | not specified | Uncertain significance (Jun 17, 2022) | ||
| 19-48832707-C-A | not specified | Uncertain significance (Jan 07, 2025) | ||
| 19-48832707-C-T | not specified | Uncertain significance (May 23, 2023) | ||
| 19-48832714-T-C | not specified | Likely benign (Oct 07, 2024) | ||
| 19-48834296-T-C | not specified | Uncertain significance (Mar 06, 2023) | ||
| 19-48834299-C-T | not specified | Uncertain significance (Jan 31, 2022) | ||
| 19-48834332-C-T | not specified | Uncertain significance (May 10, 2022) | ||
| 19-48834343-G-A | not specified | Uncertain significance (Oct 04, 2024) | ||
| 19-48834344-C-T | not specified | Uncertain significance (Jan 27, 2025) | ||
| 19-48835825-A-T | not specified | Uncertain significance (Jul 30, 2023) | ||
| 19-48836365-C-T | not specified | Uncertain significance (May 27, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| HSD17B14 | protein_coding | protein_coding | ENST00000263278 | 9 | 23662 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 3.43e-11 | 0.0474 | 125519 | 0 | 229 | 125748 | 0.000911 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.140 | 176 | 171 | 1.03 | 0.00000989 | 1692 |
| Missense in Polyphen | 59 | 62.602 | 0.94246 | 636 | ||
| Synonymous | 1.03 | 62 | 73.2 | 0.847 | 0.00000431 | 602 |
| Loss of Function | -0.0411 | 16 | 15.8 | 1.01 | 9.49e-7 | 151 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.0106 | 0.0105 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000292 | 0.000290 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.000295 | 0.000294 |
| Other | 0.000495 | 0.000489 |
dbNSFP
Source:
- Function
- FUNCTION: Has NAD-dependent 17-beta-hydroxysteroid dehydrogenase activity. Converts oestradiol to oestrone. The physiological substrate is not known. Acts on oestradiol and 5-androstene-3- beta,17-beta-diol (in vitro). {ECO:0000269|PubMed:17067289}.;
- Pathway
- Metabolism of lipids;Metabolism;Estrogen biosynthesis;Metabolism of steroid hormones;Metabolism of steroids;Steroid hormones
(Consensus)
Intolerance Scores
- loftool
- 0.456
- rvis_EVS
- 0.93
- rvis_percentile_EVS
- 89.7
Haploinsufficiency Scores
- pHI
- 0.212
- hipred
- N
- hipred_score
- 0.201
- ghis
- 0.409
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.261
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Hsd17b14
- Phenotype
- immune system phenotype; reproductive system phenotype; hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype; endocrine/exocrine gland phenotype;
Gene ontology
- Biological process
- estrogen biosynthetic process;steroid catabolic process;oxidation-reduction process
- Cellular component
- cytosol
- Molecular function
- estradiol 17-beta-dehydrogenase activity;protein binding;identical protein binding;testosterone 17-beta-dehydrogenase (NADP+) activity