Variant
ACVRL1 E407D
NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp)
- p.Glu407Asp
- p.E407D
- rs1565595129
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 25 January 2026
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
This page as data
Add .json to the page's address, or ask for application/json, to read it as JSON.
library(jsonlite)
url <- "https://dantelabs.com/genes/acvrl1/variants/e407d.json"
page <- fromJSON(url)
page$variant$nameSummary
E407D is a missense variant in ACVRL1: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Telangiectasia, Hereditary Hemorrhagic, Type 2 (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Telangiectasia, Hereditary Hemorrhagic, Type 2ClinVar VCV000585303 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 25 January 2026 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in ACVRL1
E407D lies in exon 8 of the 10 in ACVRL1's MANE Select transcript, NM_000020.3.
Molecular details
| Gene | ACVRL1 |
|---|---|
| Transcript | NM_000020.3MANE Select |
| Coding DNA change (HGVS c.) | c.1221G>T |
| Protein change (HGVS p.) | p.Glu407Aspp.E407D |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr12:51916208 G>T |
| Position (GRCh37) | chr12:52309992 G>T |
| dbSNP ID | rs1565595129 (opens in a new tab) |
| ClinVar Variation ID | VCV000585303 (opens in a new tab) |
| ClinVar Allele ID | 576353 |
| ClinGen Allele Registry ID | CA384903002 (opens in a new tab) |
| ClinVar name | NM_000020.3(ACVRL1):c.1221G>T (p.Glu407Asp) |
ACVRL1 E407D in other databases
Reports that look at this variant (1)
These Genome Test condition reports include E407D among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Hereditary Hemorrhagic Telangiectasia | Hereditary Hemorrhagic Telangiectasia | Autosomal dominant |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 | Autosomal dominant | |
| Telangiectasis |
Other variants in ACVRL1
- C46SLikely pathogenic3 stars out of 4
- C51GLikely pathogenic3 stars out of 4
- C89FLikely pathogenic3 stars out of 4
- C207Lfs*51Pathogenic3 stars out of 4
- E236KPathogenic3 stars out of 4
- H328YLikely pathogenic3 stars out of 4
- N98SLikely pathogenic3 stars out of 4
- Q490XPathogenic3 stars out of 4
- R411QPathogenic3 stars out of 4
- S186ILikely pathogenic3 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). ACVRL1 E407D (c.1221G>T, rs1565595129) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/acvrl1/variants/e407d
Dante Labs. ACVRL1 E407D (c.1221G>T, rs1565595129) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/acvrl1/variants/e407d
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