--- title: "ENG C382Y (c.1145G>A, rs1131691931) | Dante Labs" description: "ClinVar classifies ENG C382Y as Pathogenic (reviewed by expert panel). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/eng/variants/c382y" --- 1. [Genes](https://dantelabs.com/genes) 2. [ENG](https://dantelabs.com/genes/eng) 3. ENG C382Y Variant # ENG C382Y NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) Also known as - p.Cys382Tyr - p.C382Y - rs1131691931 * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 4 February 2025 * Expert panel ClinGen Hereditary Hemorrhagic Telangiectasia Variant Curation Expert Panel, ClinGen Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary C382Y is a missense variant in ENG: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Telangiectasia, Hereditary Hemorrhagic, Type 1 (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ---------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | ----------------------------------------- | ------------ | --------------- | | [Telangiectasia, Hereditary Hemorrhagic, Type 1](https://dantelabs.com/conditions/hereditary-hemorrhagic-telangiectasia) [ClinVar VCV000430375 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/430375/) | Pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 4 February 2025 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in ENG C382Y lies in exon 9 of the 15 in ENG's MANE Select transcript, NM_001114753.3. [ENG variants in exon 9 →](https://dantelabs.com/genes/eng/variants?exon=9) [ENG's gene diagram →](https://dantelabs.com/genes/eng#gene-structure) ## Molecular details | Gene | [ENG](https://dantelabs.com/genes/eng) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_001114753.3 MANE Select | | Coding DNA change (HGVS c.) | c.1145G>A | | Protein change (HGVS p.) | p.Cys382Tyr p.C382Y | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr9:127820027 C>T | | Position (GRCh37) | chr9:130582306 C>T | | dbSNP ID | [rs1131691931 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1131691931) | | ClinVar Variation ID | [VCV000430375 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/430375/) | | ClinVar Allele ID | 421702 | | ClinGen Allele Registry ID | [CA374978902 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA374978902) | | ClinVar name | NM_001114753.3(ENG):c.1145G>A (p.Cys382Tyr) | ## ENG C382Y in other databases - [ClinVar VCV000430375 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/430375/) - [dbSNP rs1131691931 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1131691931) - [ClinGen Allele Registry CA374978902 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA374978902) - [gnomAD 9-127820027-C-T (opens in a new tab)](https://gnomad.broadinstitute.org/variant/9-127820027-C-T?dataset=gnomad_r4) - [Ensembl rs1131691931 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs1131691931) ## Reports that look at this variant (1) These Genome Test condition reports include C382Y among the variants they look at. | Report | Conditions | Inheritance | | --------------------------------------------------------------------------------------------------------------- | ---------------------------------------------- | ------------------ | | [Hereditary Hemorrhagic Telangiectasia](https://dantelabs.com/conditions/hereditary-hemorrhagic-telangiectasia) | Hereditary Hemorrhagic Telangiectasia | Autosomal dominant | | | Telangiectasia, Hereditary Hemorrhagic, Type 1 | Autosomal dominant | | | Telangiectasis | | ## Other variants in ENG - [c.2T>G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/eng/variants/c-2t-g) - [C549G Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/eng/variants/c549g) - [G331S Pathogenic 3 stars out of 4](https://dantelabs.com/genes/eng/variants/g331s) - [G603R Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/eng/variants/g603r) - [L221P Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/eng/variants/l221p) - [L506H Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/eng/variants/l506h) - [N423S Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/eng/variants/n423s) - [R529H Pathogenic 3 stars out of 4](https://dantelabs.com/genes/eng/variants/r529h) - [V440G Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/eng/variants/v440g) - [V568Sfs\*5 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/eng/variants/v568sfs5) [All ENG variants](https://dantelabs.com/genes/eng/variants) ## 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 APA > Dante Labs. (16 October 2026). ENG C382Y (c.1145G>A, rs1131691931) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https\://dantelabs.com/genes/eng/variants/c382y Vancouver > Dante Labs. ENG C382Y (c.1145G>A, rs1131691931) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/eng/variants/c382y Download citation [RIS](https://dantelabs.com/genes/eng/variants/c382y/cite.ris) [BibTeX](https://dantelabs.com/genes/eng/variants/c382y/cite.bib) [CSL-JSON](https://dantelabs.com/genes/eng/variants/c382y/cite.json) ## Read your whole genome From $449 Free shipping · Results in 6–8 weeks [Explore the Genome Test](https://dantelabs.com/whole-genome-sequencing)