Variant
APC A514X
NM_000038.6(APC):c.1538_1539dup (p.Ala514Ter)
- p.Ala514Ter
- p.A514*
- rs1554081762
- ClinVar classification
- Pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 1 May 2023
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
Summary
A514X is a nonsense variant in APC: it creates an early stop signal, so the protein the gene encodes is predicted to be cut short. ClinVar classifies it as pathogenic for familial adenomatous polyposis 1 (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| familial adenomatous polyposis 1ClinVar VCV000469711 (opens in a new tab) | Pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 1 May 2023 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in APC
A514X lies in exon 12 of the 16 in APC's MANE Select transcript, NM_000038.6.
Molecular details
| Gene | APC |
|---|---|
| Transcript | NM_000038.6MANE Select |
| Coding DNA change (HGVS c.) | c.1538_1539dup |
| Protein change (HGVS p.) | p.Ala514Terp.A514* |
| Predicted consequence | Nonsense (stop gained)stop_gained (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr5:112827236 G>GTA |
| Position (GRCh37) | chr5:112162933 G>GTA |
| dbSNP ID | rs1554081762 (opens in a new tab) |
| ClinVar Variation ID | VCV000469711 (opens in a new tab) |
| ClinVar Allele ID | 454076 |
| ClinGen Allele Registry ID | CA658655940 (opens in a new tab) |
| ClinVar name | NM_000038.6(APC):c.1538_1539dup (p.Ala514Ter) |
APC A514X in other databases
Reports that look at this variant (1)
These Genome Test condition reports include A514X among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Colorectal Cancer & Polyposis | Familial adenomatous polyposis (classic or attenuated) | Autosomal dominant |
Other variants in APC
- c.220+1G>APathogenic3 stars out of 4
- c.220+2T>APathogenic3 stars out of 4
- c.423-8A>GLikely pathogenic3 stars out of 4
- c.423-9A>GLikely pathogenic3 stars out of 4
- c.423-11A>GLikely pathogenic3 stars out of 4
- c.471G>APathogenic3 stars out of 4
- c.531+1_531+4delLikely pathogenic3 stars out of 4
- c.531+5G>AIVS5+5G>ALikely pathogenic3 stars out of 4
- c.531+5G>CLikely pathogenic3 stars out of 4
- c.531+6T>CLikely 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 2026-10-16-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). APC A514X (c.1538_1539dup, rs1554081762) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/apc/variants/a514x
Dante Labs. APC A514X (c.1538_1539dup, rs1554081762) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/apc/variants/a514x
Read your whole genome
From $449Free shipping · Results in 6–8 weeks