--- title: "COL3A1 E241K (c.721G>A, rs1553507432) | Dante Labs" description: "ClinVar classifies COL3A1 E241K as Pathogenic/likely pathogenic (criteria provided, multiple submitters, no conflicts). Where it sits in the genome, its predicted effect, and the Genome Test reports that look at it." url: "https://dantelabs.com/genes/col3a1/variants/e241k" --- 1. [Genes](https://dantelabs.com/genes) 2. [COL3A1](https://dantelabs.com/genes/col3a1) 3. COL3A1 E241K Variant # COL3A1 E241K NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys) Also known as - p.Glu241Lys - p.E241K - rs1553507432 * ClinVar classification Pathogenic/likely pathogenic * Review status 2 stars out of 4 criteria provided, multiple submitters, no conflicts * Last evaluated 28 December 2025 Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.19-9814e911 Facts last changed 18 October 2026 ## Summary E241K is a missense variant in COL3A1: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic or likely pathogenic for Ehlers-Danlos syndrome, vascular type (criteria provided, multiple submitters, no conflicts). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ---------------------------------------------------------------------------------------------------------------------------------------- | ---------------------------- | --------------------------------------------------------------------- | ------------- | ---------------- | | Ehlers-Danlos syndrome, vascular type[ClinVar VCV000529313 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/529313/) | Pathogenic/likely pathogenic | 2 stars out of 4 criteria provided, multiple submitters, no conflicts | 2 submissions | 28 December 2025 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## ACMG/AMP criteria The ACMG/AMP criteria E241K meets, from its predicted effect in COL3A1, gnomAD and ClinVar. | Criterion | Strength | Rests on | | ----------------------------------------------- | ---------- | -------------------------------------------------------------------------------------------- | | PM2 Absent or very rare in population databases | Supporting | Not seen in gnomAD exomes, gnomAD genomes | | PP5 A 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. ## Population frequency How often E241K is seen among the people whose exomes and genomes gnomAD 4.1 brings together. | Dataset | Allele frequency | Allele count | Homozygotes | Commonest in | | -------------- | ---------------- | ------------ | ----------- | ------------ | | gnomAD exomes | Not seen | 0 of 0 | 0 | | | gnomAD genomes | Not seen | 0 of 0 | 0 | | Figures from gnomAD 4.1, as gnomAD publishes them. Groups are genetic ancestry groups as gnomAD infers them. They describe the variant in gnomAD's populations, not anyone's result. [E241K in the gnomAD browser (opens in a new tab)](https://gnomad.broadinstitute.org/variant/2-188990126-G-A?dataset=gnomad_r4) ## Where it lies in COL3A1 E241K lies in exon 9 of the 51 in COL3A1's MANE Select transcript, NM_000090.4. [COL3A1 variants in exon 9 →](https://dantelabs.com/genes/col3a1/variants?exon=9) [COL3A1's gene diagram →](https://dantelabs.com/genes/col3a1#gene-structure) ## Molecular details | Gene | [COL3A1](https://dantelabs.com/genes/col3a1) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000090.4 MANE Select | | Coding DNA change (HGVS c.) | c.721G>A | | Protein change (HGVS p.) | p.Glu241Lys p.E241K | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr2:188990126 G>A | | Position (GRCh37) | chr2:189854852 G>A | | dbSNP ID | [rs1553507432 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1553507432) | | ClinVar Variation ID | [VCV000529313 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/529313/) | | ClinVar Allele ID | 517419 | | ClinGen Allele Registry ID | [CA349849021 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA349849021) | | ClinVar name | NM_000090.4(COL3A1):c.721G>A (p.Glu241Lys) | ## COL3A1 E241K in other databases - [ClinVar VCV000529313 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/529313/) - [dbSNP rs1553507432 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs1553507432) - [ClinGen Allele Registry CA349849021 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA349849021) - [gnomAD 2-188990126-G-A (opens in a new tab)](https://gnomad.broadinstitute.org/variant/2-188990126-G-A?dataset=gnomad_r4) - [Ensembl rs1553507432 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs1553507432) ## Reports that look at this variant (1) These Genome Test condition reports include E241K among the variants they look at. | Report | Conditions | Inheritance | | --------------------------------------------------------------------------------- | ---------------------- | ----------- | | [Ehlers-Danlos Syndrome](https://dantelabs.com/conditions/ehlers-danlos-syndrome) | Ehlers-Danlos syndrome | | ## Other variants in COL3A1 - [c.80-2A>T Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/col3a1/variants/c-80-2a-t) - [c.636+5G>A Pathogenic 2 stars out of 4](https://dantelabs.com/genes/col3a1/variants/c-636plus5g-a) - [c.691-2A>G Pathogenic 2 stars out of 4](https://dantelabs.com/genes/col3a1/variants/c-691-2a-g) - [c.852+2T>C Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/col3a1/variants/c-852plus2t-c) - [c.897+1G>A Pathogenic/likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/col3a1/variants/c-897plus1g-a) - [c.1348-2A>G Pathogenic/likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/col3a1/variants/c-1348-2a-g) - [c.1509+2T>C Likely pathogenic 2 stars out of 4](https://dantelabs.com/genes/col3a1/variants/c-1509plus2t-c) - [c.1662+1G>A Pathogenic 2 stars out of 4](https://dantelabs.com/genes/col3a1/variants/c-1662plus1g-a) - [c.2823+1G>A Pathogenic 2 stars out of 4](https://dantelabs.com/genes/col3a1/variants/c-2823plus1g-a) - [c.3417+1G>A Pathogenic 2 stars out of 4](https://dantelabs.com/genes/col3a1/variants/c-3417plus1g-a) [All COL3A1 variants](https://dantelabs.com/genes/col3a1/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 2026-10-19-c4908f54). - Reference SNP identifiers from dbSNP (release b157), National Center for Biotechnology Information. - Gene–disease links from the Gene Curation Coalition, GenCC (release 2026-10-19). - 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 2026.10.19-9814e911 of 19 October 2026. ## Cite this page APA > Dante Labs. (18 October 2026). COL3A1 E241K (c.721G>A, rs1553507432) (Version 2026.10.19-9814e911). Retrieved 20 October 2026, from https\://dantelabs.com/genes/col3a1/variants/e241k Vancouver > Dante Labs. COL3A1 E241K (c.721G>A, rs1553507432) \[Internet]. Version 2026.10.19-9814e911. 18 October 2026 \[cited 20 October 2026]. Available from: https\://dantelabs.com/genes/col3a1/variants/e241k Download citation [RIS](https://dantelabs.com/genes/col3a1/variants/e241k/cite.ris) [BibTeX](https://dantelabs.com/genes/col3a1/variants/e241k/cite.bib) [CSL-JSON](https://dantelabs.com/genes/col3a1/variants/e241k/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)