Variant
ABCA4 A960Dfs*17
NM_000350.3(ABCA4):c.2879del (p.Ala960AspfsTer17)
- p.Ala960AspfsTer17
- p.A960Dfs*17
- rs2101057149
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 5 December 2025
- Expert panel
- ClinGen ABCA4 Variant Curation Expert Panel, Clingen
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Reference genomeGRCh38hg38
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Summary
A960Dfs*17 is a frameshift variant in ABCA4: it adds or removes DNA letters in a way that shifts how the rest of the gene's code is read. ClinVar classifies it as pathogenic for ABCA4-Related Retinopathy (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| ABCA4-Related RetinopathyClinVar VCV001372740 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 5 December 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in ABCA4
A960Dfs*17 lies in exon 19 of the 50 in ABCA4's MANE Select transcript, NM_000350.3.
Molecular details
| Gene | ABCA4 |
|---|---|
| Transcript | NM_000350.3MANE Select |
| Coding DNA change (HGVS c.) | c.2879del |
| Protein change (HGVS p.) | p.Ala960AspfsTer17p.A960Dfs*17 |
| Predicted consequence | Frameshiftframeshift_variant (opens in a new tab)frameshift_truncation (opens in a new tab) |
| Predicted impact | High |
| Position (GRCh38) | chr1:94046957 TG>T |
| Position (GRCh37) | chr1:94512513 TG>T |
| dbSNP ID | rs2101057149 (opens in a new tab) |
| ClinVar Variation ID | VCV001372740 (opens in a new tab) |
| ClinVar Allele ID | 1440118 |
| ClinGen Allele Registry ID | CA2573132716 (opens in a new tab) |
| ClinVar name | NM_000350.3(ABCA4):c.2879del (p.Ala960fs) |
ABCA4 A960Dfs*17 in other databases
Reports that look at this variant (1)
These Genome Test condition reports include A960Dfs*17 among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Stargardt Disease | ABCA4-Related Retinopathy | Autosomal recessive |
Other variants in ABCA4
- A967VLikely pathogenic3 stars out of 4
- A1773VPathogenic3 stars out of 4
- A1791Gfs*9Pathogenic3 stars out of 4
- c.1A>GPathogenic3 stars out of 4
- c.3G>TPathogenic3 stars out of 4
- c.1937+1G>APathogenic3 stars out of 4
- c.3328+2T>APathogenic3 stars out of 4
- c.3523-1G>APathogenic3 stars out of 4
- c.4253+43G>APathogenic3 stars out of 4
- c.4254-1G>CPathogenic3 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). ABCA4 A960Dfs*17 (c.2879del, rs2101057149) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/abca4/variants/a960dfs17
Dante Labs. ABCA4 A960Dfs*17 (c.2879del, rs2101057149) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/abca4/variants/a960dfs17
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