--- title: "F8 E2341K (c.7021G>A, rs2072484280) | Dante Labs" description: "ClinVar classifies F8 E2341K as Likely 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/f8/variants/e2341k" --- 1. [Genes](https://dantelabs.com/genes) 2. [F8](https://dantelabs.com/genes/f8) 3. F8 E2341K Variant # F8 E2341K NM_000132.4(F8):c.7021G>A (p.Glu2341Lys) Also known as - p.Glu2341Lys - p.E2341K - rs2072484280 * ClinVar classification Likely pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 2 May 2025 * Expert panel ClinGen Coagulation Factor Deficiency 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 E2341K is a missense variant in F8: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for hemophilia A (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | --------------------------------------------------------------------------------------------------------------- | ----------------- | ----------------------------------------- | ------------ | -------------- | | hemophilia A[ClinVar VCV000993916 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/993916/) | Likely pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 2 May 2025 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in F8 E2341K lies in exon 26 of the 26 in F8's MANE Select transcript, NM_000132.4. [F8 variants in exon 26 →](https://dantelabs.com/genes/f8/variants?exon=26) [F8's gene diagram →](https://dantelabs.com/genes/f8#gene-structure) ## Molecular details | Gene | [F8](https://dantelabs.com/genes/f8) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000132.4 MANE Select | | Coding DNA change (HGVS c.) | c.7021G>A | | Protein change (HGVS p.) | p.Glu2341Lys p.E2341K | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chrX:154837632 C>T | | Position (GRCh37) | chrX:154065907 C>T | | dbSNP ID | [rs2072484280 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs2072484280) | | ClinVar Variation ID | [VCV000993916 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/993916/) | | ClinVar Allele ID | 982302 | | ClinGen Allele Registry ID | [CA414896766 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA414896766) | | ClinVar name | NM_000132.4(F8):c.7021G>A (p.Glu2341Lys) | ## F8 E2341K in other databases - [ClinVar VCV000993916 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/993916/) - [dbSNP rs2072484280 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs2072484280) - [ClinGen Allele Registry CA414896766 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA414896766) - [gnomAD X-154837632-C-T (opens in a new tab)](https://gnomad.broadinstitute.org/variant/X-154837632-C-T?dataset=gnomad_r4) - [Ensembl rs2072484280 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs2072484280) ## Reports that look at this variant (1) These Genome Test condition reports include E2341K among the variants they look at. | Report | Conditions | Inheritance | | ----------------------------------------------------------- | ---------- | ------------------ | | [Haemophilia](https://dantelabs.com/conditions/haemophilia) | Hemophilia | X-linked recessive | ## Other variants in F8 - [A111T Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/f8/variants/a111t) - [A415D Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/f8/variants/a415d) - [A415V Pathogenic 3 stars out of 4](https://dantelabs.com/genes/f8/variants/a415v) - [A2220P Pathogenic 3 stars out of 4](https://dantelabs.com/genes/f8/variants/a2220p) - [c.1420G>C Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/f8/variants/c-1420g-c) - [c.5217C>T Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/f8/variants/c-5217c-t) - [c.6429+2T>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/f8/variants/c-6429plus2t-a) - [C2345R Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/f8/variants/c2345r) - [E200G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/f8/variants/e200g) - [E739K Pathogenic 3 stars out of 4](https://dantelabs.com/genes/f8/variants/e739k) [All F8 variants](https://dantelabs.com/genes/f8/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). F8 E2341K (c.7021G>A, rs2072484280) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/f8/variants/e2341k Vancouver > Dante Labs. F8 E2341K (c.7021G>A, rs2072484280) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/f8/variants/e2341k Download citation [RIS](https://dantelabs.com/genes/f8/variants/e2341k/cite.ris) [BibTeX](https://dantelabs.com/genes/f8/variants/e2341k/cite.bib) [CSL-JSON](https://dantelabs.com/genes/f8/variants/e2341k/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)