Variant
ENG A175S
NM_001114753.3(ENG):c.523G>T (p.Ala175Ser)
- p.Ala175Ser
- p.A175S
- rs1588583488
- ClinVar classification
- Likely pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 27 March 2019
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.17-8666dff2Facts last changed 17 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)
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page$variant$nameSummary
A175S is a missense variant in ENG: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for Telangiectasia, Hereditary Hemorrhagic, Type 1 (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Telangiectasia, Hereditary Hemorrhagic, Type 1ClinVar VCV000641795 (opens in a new tab) | Likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 27 March 2019 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
ACMG/AMP criteria
The ACMG/AMP criteria A175S meets, from its predicted effect in ENG, gnomAD and ClinVar.
| Criterion | Strength | Rests on |
|---|---|---|
| PP5A reputable source reports it as pathogenic | Supporting | ClinVar: Pathogenic/likely pathogenic (criteria provided, multiple submitters, no conflicts) |
On these criteria alone: uncertain significance.
Assessed automatically, without functional, computational or family evidence. Not a clinical classification.
Where it lies in ENG
A175S lies in exon 4 of the 15 in ENG's MANE Select transcript, NM_001114753.3.
Molecular details
| Gene | ENG |
|---|---|
| Transcript | NM_001114753.3MANE Select |
| Coding DNA change (HGVS c.) | c.523G>T |
| Protein change (HGVS p.) | p.Ala175Serp.A175S |
| Predicted consequence | Missensemissense_variant (opens in a new tab)exonic_splice_region_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr9:127826510 C>A |
| Position (GRCh37) | chr9:130588789 C>A |
| dbSNP ID | rs1588583488 (opens in a new tab) |
| ClinVar Variation ID | VCV000641795 (opens in a new tab) |
| ClinVar Allele ID | 637705 |
| ClinGen Allele Registry ID | CA374984091 (opens in a new tab) |
| ClinVar name | NM_001114753.3(ENG):c.523G>T (p.Ala175Ser) |
ENG A175S in other databases
Reports that look at this variant (1)
These Genome Test condition reports include A175S among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Hereditary Hemorrhagic Telangiectasia | Hereditary Hemorrhagic Telangiectasia | Autosomal dominant |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 | Autosomal dominant | |
| Telangiectasis |
Other variants in ENG
- c.2T>GPathogenic3 stars out of 4
- C382YPathogenic3 stars out of 4
- C549GLikely pathogenic3 stars out of 4
- G331SPathogenic3 stars out of 4
- G603RLikely pathogenic3 stars out of 4
- L221PLikely pathogenic3 stars out of 4
- L506HLikely pathogenic3 stars out of 4
- N423SLikely pathogenic3 stars out of 4
- R529HPathogenic3 stars out of 4
- V440GLikely 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 2026-10-17-c4908f54).
- Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information.
- Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-17).
- 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 2026.10.17-8666dff2 of 17 October 2026.
Cite this page
Dante Labs. (17 October 2026). ENG A175S (c.523G>T, rs1588583488) (Version 2026.10.17-8666dff2). Retrieved 17 October 2026, from https://dantelabs.com/genes/eng/variants/a175s
Dante Labs. ENG A175S (c.523G>T, rs1588583488) [Internet]. Version 2026.10.17-8666dff2. 17 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/eng/variants/a175s
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