--- title: "ABCA4 A960Dfs*17 (c.2879del, rs2101057149) | Dante Labs" description: "ClinVar classifies ABCA4 A960Dfs*17 as 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/abca4/variants/a960dfs17" --- 1. [Genes](https://dantelabs.com/genes) 2. [ABCA4](https://dantelabs.com/genes/abca4) 3. ABCA4 A960Dfs\*17 Variant # ABCA4 A960Dfs\*17 NM_000350.3(ABCA4):c.2879del (p.Ala960AspfsTer17) Also known as - p.Ala960AspfsTer17 - p.A960Dfs\*17 - rs2101057149 * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed 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-c6eea6bf Facts last changed 16 October 2026 ## 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 Retinopathy](https://dantelabs.com/conditions/stargardt-disease) [ClinVar VCV001372740 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/1372740/) | Pathogenic | 3 stars out of 4 reviewed 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. [ABCA4 variants in exon 19 →](https://dantelabs.com/genes/abca4/variants?exon=19) [ABCA4's gene diagram →](https://dantelabs.com/genes/abca4#gene-structure) ## Molecular details | Gene | [ABCA4](https://dantelabs.com/genes/abca4) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_000350.3 MANE Select | | Coding DNA change (HGVS c.) | c.2879del | | Protein change (HGVS p.) | p.Ala960AspfsTer17 p.A960Dfs\*17 | | Predicted consequence | Frameshift [frameshift_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001589) [frameshift_truncation (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001910) | | Predicted impact | High | | Position (GRCh38) | chr1:94046957 TG>T | | Position (GRCh37) | chr1:94512513 TG>T | | dbSNP ID | [rs2101057149 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs2101057149) | | ClinVar Variation ID | [VCV001372740 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/1372740/) | | ClinVar Allele ID | 1440118 | | ClinGen Allele Registry ID | [CA2573132716 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA2573132716) | | ClinVar name | NM_000350.3(ABCA4):c.2879del (p.Ala960fs) | ## ABCA4 A960Dfs\*17 in other databases - [ClinVar VCV001372740 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/1372740/) - [dbSNP rs2101057149 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs2101057149) - [ClinGen Allele Registry CA2573132716 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA2573132716) - [gnomAD 1-94046957-TG-T (opens in a new tab)](https://gnomad.broadinstitute.org/variant/1-94046957-TG-T?dataset=gnomad_r4) - [Ensembl rs2101057149 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs2101057149) ## 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](https://dantelabs.com/conditions/stargardt-disease) | ABCA4-Related Retinopathy | Autosomal recessive | ## Other variants in ABCA4 - [A967V Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/abca4/variants/a967v) - [A1773V Pathogenic 3 stars out of 4](https://dantelabs.com/genes/abca4/variants/a1773v) - [A1791Gfs\*9 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/abca4/variants/a1791gfs9) - [c.1A>G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/abca4/variants/c-1a-g) - [c.3G>T Pathogenic 3 stars out of 4](https://dantelabs.com/genes/abca4/variants/c-3g-t) - [c.1937+1G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/abca4/variants/c-1937plus1g-a) - [c.3328+2T>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/abca4/variants/c-3328plus2t-a) - [c.3523-1G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/abca4/variants/c-3523-1g-a) - [c.4253+43G>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/abca4/variants/c-4253plus43g-a) - [c.4254-1G>C Pathogenic 3 stars out of 4](https://dantelabs.com/genes/abca4/variants/c-4254-1g-c) [All ABCA4 variants](https://dantelabs.com/genes/abca4/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). ABCA4 A960Dfs\*17 (c.2879del, rs2101057149) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https\://dantelabs.com/genes/abca4/variants/a960dfs17 Vancouver > Dante Labs. ABCA4 A960Dfs\*17 (c.2879del, rs2101057149) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 17 October 2026]. Available from: https\://dantelabs.com/genes/abca4/variants/a960dfs17 Download citation [RIS](https://dantelabs.com/genes/abca4/variants/a960dfs17/cite.ris) [BibTeX](https://dantelabs.com/genes/abca4/variants/a960dfs17/cite.bib) [CSL-JSON](https://dantelabs.com/genes/abca4/variants/a960dfs17/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)