Variant
APOB E3493K
NM_000384.3(APOB):c.10477G>A (p.Glu3493Lys)
- p.Glu3493Lys
- p.E3493K
- rs1251501652
- ClinVar classification
- Likely pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 16 December 2025
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
E3493K is a missense variant in APOB: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for familial hypercholesterolemia (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| familial hypercholesterolemiaClinVar VCV001440071 (opens in a new tab) | Likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 16 December 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in APOB
E3493K lies in exon 26 of the 29 in APOB's MANE Select transcript, NM_000384.3.
Molecular details
| Gene | APOB |
|---|---|
| Transcript | NM_000384.3MANE Select |
| Coding DNA change (HGVS c.) | c.10477G>A |
| Protein change (HGVS p.) | p.Glu3493Lysp.E3493K |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr2:21006391 C>T |
| Position (GRCh37) | chr2:21229263 C>T |
| dbSNP ID | rs1251501652 (opens in a new tab) |
| ClinVar Variation ID | VCV001440071 (opens in a new tab) |
| ClinVar Allele ID | 1368521 |
| ClinGen Allele Registry ID | CA345986446 (opens in a new tab) |
| ClinVar name | NM_000384.3(APOB):c.10477G>A (p.Glu3493Lys) |
APOB E3493K in other databases
Reports that look at this variant (2)
These Genome Test condition reports include E3493K among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Familial Hypercholesterolemia | familial hypercholesterolemia | |
| Hyperlipidemia | Hyperlipidemia |
Other variants in APOB
- c.78_82+5delLikely pathogenic2 stars out of 4
- c.226_237+1delPathogenic/likely pathogenic2 stars out of 4
- c.537+1G>TPathogenic/likely pathogenic2 stars out of 4
- c.1830-1G>APathogenic2 stars out of 4
- c.2604+1G>ALikely pathogenic2 stars out of 4
- E137XPathogenic2 stars out of 4
- F705Lfs*30Pathogenic2 stars out of 4
- F3039Sfs*5Pathogenic/likely pathogenic2 stars out of 4
- G3617Afs*6Pathogenic/likely pathogenic2 stars out of 4
- K3067Rfs*2Pathogenic2 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 2026-10-16-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
Dante Labs. (16 October 2026). APOB E3493K (c.10477G>A, rs1251501652) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/apob/variants/e3493k
Dante Labs. APOB E3493K (c.10477G>A, rs1251501652) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/apob/variants/e3493k
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