Variant
HNF1A H143Tfs*12
NM_000545.8(HNF1A):c.427del (p.His143ThrfsTer12)
- p.His143ThrfsTer12
- p.H143Tfs*12
- rs2135832675
- ClinVar classification
- Likely pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 29 October 2021
- Expert panel
- ClinGen Monogenic Diabetes Variant Curation Expert Panel
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
H143Tfs*12 is a frameshift variant in HNF1A: it adds or removes DNA letters in a way that shifts how the rest of the gene's code is read. ClinVar classifies it as likely pathogenic for monogenic diabetes (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| monogenic diabetesClinVar VCV001327607 (opens in a new tab) | Likely pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 29 October 2021 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in HNF1A
H143Tfs*12 lies in exon 2 of the 10 in HNF1A's MANE Select transcript, NM_000545.8.
Molecular details
| Gene | HNF1A |
|---|---|
| Transcript | NM_000545.8MANE Select |
| Coding DNA change (HGVS c.) | c.427del |
| Protein change (HGVS p.) | p.His143ThrfsTer12p.H143Tfs*12 |
| Predicted consequence | Frameshiftframeshift_variant (opens in a new tab)frameshift_truncation (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr12:120988930 TC>T |
| Position (GRCh37) | chr12:121426733 TC>T |
| dbSNP ID | rs2135832675 (opens in a new tab) |
| ClinVar Variation ID | VCV001327607 (opens in a new tab) |
| ClinVar Allele ID | 1318220 |
| ClinGen Allele Registry ID | CA2023554331 (opens in a new tab) |
| ClinVar name | NM_000545.8(HNF1A):c.427del (p.His143fs) |
HNF1A H143Tfs*12 in other databases
Reports that look at this variant (1)
These Genome Test condition reports include H143Tfs*12 among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Diabetes Mellitus | Diabetes Mellitus |
Other variants in HNF1A
- A15Gfs*15Pathogenic3 stars out of 4
- A116TLikely pathogenic3 stars out of 4
- A116VPathogenic3 stars out of 4
- A209ELikely pathogenic3 stars out of 4
- A209Sfs*11Pathogenic3 stars out of 4
- A239TLikely pathogenic3 stars out of 4
- A276DPathogenic3 stars out of 4
- A276GLikely pathogenic3 stars out of 4
- A406VLikely pathogenic3 stars out of 4
- A501TPathogenic3 stars out of 4
Limitations
This page describes publicly available information about a genetic variant. It is not a diagnosis, and it says nothing about whether you or anyone else carries this variant.
Classifications come from ClinVar and change as new evidence is reviewed. A classification here may differ from the one in ClinVar today, or from the one a laboratory reports.
Whole genome sequencing with short reads can miss or miscall some variants, particularly in repeated or highly similar stretches of DNA and in large insertions, deletions or rearrangements.
If you have questions about a variant in your own results or in your family, talk to a genetic counsellor or your doctor.
Sources & credits
- Classifications from ClinVar (release 2026-10-12), National Center for Biotechnology Information.
- Condition terms from the Mondo Disease Ontology (release 2026-10-06), used under CC BY 4.0.
- Gene symbols and names from the HUGO Gene Nomenclature Committee (release 2026-10-16).
- Allele identifiers from the ClinGen Allele Registry (release 2026-10-16-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-16).
- Difficult regions from the Genome in a Bottle Consortium (release v3.6).
- Transcripts from MANE (release v1.5), NCBI and EMBL-EBI.
- Predicted consequences from mehari (release 0.11.0), with transcript models from cdot.
- Built from Dante Labs data release 2026.10.16-c6eea6bf of 16 October 2026.
Cite this page
Dante Labs. (16 October 2026). HNF1A H143Tfs*12 (c.427del, rs2135832675) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/hnf1a/variants/h143tfs12
Dante Labs. HNF1A H143Tfs*12 (c.427del, rs2135832675) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/hnf1a/variants/h143tfs12
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