ACVRL1 gene: activin A receptor like type 1

Curated report relevant to this gene

Hereditary Hemorrhagic Telangiectasia
- Telangiectasia, Hereditary Hemorrhagic, Type 2Autosomal dominant
  Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene.
  - ClinGen rates the link definitive
  - 5 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
- Autosomal dominant
  A disorder of angiogenesis leading to arteriovenous dilatations: cutaneo-mucosal hemorrhagic telangiectasias and visceral shunting.
  - ClinGen rates the link definitive
  - 5 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list
- Telangiectasis
  Local dilatation of small vessels resulting in red discoloration of the skin or mucous membranes.
  - ClinGen rates the link definitive
  - 5 GenCC submitters rate it definitive or strong
  - On the ACMG secondary findings list

Inheritance

Autosomal dominant: One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.

How ACVRL1 is laid out

Coding sequence
Untranslated region
Intron
Direction of transcription
Known disease-causing sites
Stretches short reads find hard
Variants with a page

Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.

Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).

Nearby genes from Ensembl release 116, on GRCh38.

Exons make up 4.2 kb of the gene's 15.9 kb; 1,512 of those bases code for the protein.

How a genome test reads ACVRL1

369

positions in ACVRL1 where ClinVar classes a change as pathogenic or likely pathogenic

None of them falls in a region short reads find hard.

A whole genome covers all 15.9 kb of ACVRL1, introns included, not only the 4.2 kb of exons.

Variants with a page (92)

The ACVRL1 variants with a page here, most review stars first. Each page describes ClinVar's public record of the variant, never a result.

Variant	HGVS c.	Exon or intron	Position (GRCh38)	ClinVar classification	Review status
C46S	c.137G>C	Exon 3	51,913,174	Likely pathogenic	3 stars out of 4 reviewed by expert panel
C51G	c.151T>G	Exon 3	51,913,188	Likely pathogenic	3 stars out of 4 reviewed by expert panel
C89F	c.266G>T	Exon 3	51,913,303	Likely pathogenic	3 stars out of 4 reviewed by expert panel
C207Lfs*51	c.620del	Exon 5	51,914,067	Pathogenic	3 stars out of 4 reviewed by expert panel
E236K	c.706G>A	Exon 6	51,914,519	Pathogenic	3 stars out of 4 reviewed by expert panel
H328Y	c.982C>T	Exon 7	51,915,434	Likely pathogenic	3 stars out of 4 reviewed by expert panel
N98S	c.293A>G	Exon 3	51,913,330	Likely pathogenic	3 stars out of 4 reviewed by expert panel
Q490X	c.1468C>T	Exon 10	51,920,849	Pathogenic	3 stars out of 4 reviewed by expert panel
R411Q	c.1232G>A	Exon 8	51,916,219	Pathogenic	3 stars out of 4 reviewed by expert panel
S186I	c.557G>T	Exon 5	51,914,005	Likely pathogenic	3 stars out of 4 reviewed by expert panel

See all 92 ACVRL1 variants →

Traits linked to ACVRL1

The Human Phenotype Ontology lists these as features of the rare conditions ACVRL1 can cause. Each trait's page lists the other genes linked to it.

Abnormality of the cardiovascular system

Show 19 more traits

Abnormality of blood and blood-forming tissues

Show 3 more traits

Abnormality of head or neck

Abnormality of the digestive system

Abnormality of limbs

Abnormality of the nervous system

Abnormality of the respiratory system

External links

Gene records

Transcript

Protein

Variants

Clinical

Where this comes from

HGNC: the gene's symbol, name, other symbols and location.
MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
The ACMG secondary findings list, SF v3.2.
ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
Data release 2026.10.16-c6eea6bf.

Cite this page

APA

Dante Labs. (n.d.). ACVRL1 gene: activin A receptor like type 1. Retrieved 17 October 2026, from https://dantelabs.com/genes/acvrl1

Vancouver

Dante Labs. ACVRL1 gene: activin A receptor like type 1 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/acvrl1