--- title: "USH2A C759F (c.2276G>T, rs80338902) | Dante Labs" description: "ClinVar classifies USH2A C759F 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/ush2a/variants/c759f" --- 1. [Genes](https://dantelabs.com/genes) 2. [USH2A](https://dantelabs.com/genes/ush2a) 3. USH2A C759F Variant # USH2A C759F NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) Also known as - USH2A, CYS759PHE (rs80338902) - p.Cys759Phe - p.C759F - rs80338902 * ClinVar classification Pathogenic * Review status 3 stars out of 4 reviewed by expert panel * Last evaluated 28 July 2019 * Expert panel ClinGen Hearing Loss Variant Curation Expert Panel Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bf Facts last changed 16 October 2026 ## Summary C759F is a missense variant in USH2A: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Usher Syndrome (reviewed by expert panel). ## ClinVar classifications | Condition | Classification | Review status | Submissions | Last evaluated | | ------------------------------------------------------------------------------------------------------------------------------------------------------------------- | -------------- | ----------------------------------------- | ------------ | -------------- | | [Usher Syndrome](https://dantelabs.com/conditions/usher-syndrome) [ClinVar VCV000002356 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/2356/) | Pathogenic | 3 stars out of 4 reviewed by expert panel | 1 submission | 28 July 2019 | Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed. ## Where it lies in USH2A C759F lies in exon 13 of the 72 in USH2A's MANE Select transcript, NM_206933.4. [USH2A variants in exon 13 →](https://dantelabs.com/genes/ush2a/variants?exon=13) [USH2A's gene diagram →](https://dantelabs.com/genes/ush2a#gene-structure) ## Molecular details | Gene | [USH2A](https://dantelabs.com/genes/ush2a) | | --------------------------- | ----------------------------------------------------------------------------------------------------------------------------------------------- | | Transcript | NM_206933.4 MANE Select | | Coding DNA change (HGVS c.) | c.2276G>T | | Protein change (HGVS p.) | p.Cys759Phe p.C759F | | Predicted consequence | Missense [missense_variant (opens in a new tab)](https://purl.obolibrary.org/obo/SO_0001583) | | Predicted impact | Moderate | | Position (GRCh38) | chr1:216247118 C>A | | Position (GRCh37) | chr1:216420460 C>A | | dbSNP ID | [rs80338902 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs80338902) | | ClinVar Variation ID | [VCV000002356 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/2356/) | | ClinVar Allele ID | 17395 | | ClinGen Allele Registry ID | [CA252233 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA252233) | | ClinVar name | NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) | | Other names | USH2A, CYS759PHE (rs80338902) | ## USH2A C759F in other databases - [ClinVar VCV000002356 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/clinvar/variation/2356/) - [dbSNP rs80338902 (opens in a new tab)](https://www.ncbi.nlm.nih.gov/snp/rs80338902) - [ClinGen Allele Registry CA252233 (opens in a new tab)](https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_canonicalid?canonicalid=CA252233) - [gnomAD 1-216247118-C-A (opens in a new tab)](https://gnomad.broadinstitute.org/variant/1-216247118-C-A?dataset=gnomad_r4) - [Ensembl rs80338902 (opens in a new tab)](https://www.ensembl.org/Homo_sapiens/Variation/Explore?v=rs80338902) ## Reports that look at this variant (1) These Genome Test condition reports include C759F among the variants they look at. | Report | Conditions | Inheritance | | ----------------------------------------------------------------- | -------------- | ------------------- | | [Usher Syndrome](https://dantelabs.com/conditions/usher-syndrome) | Usher Syndrome | Autosomal recessive | ## Other variants in USH2A - [A4740D Pathogenic 3 stars out of 4](https://dantelabs.com/genes/ush2a/variants/a4740d) - [c.5857+2T>C Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/ush2a/variants/c-5857plus2t-c) - [c.8559-2A>G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/ush2a/variants/c-8559-2a-g) - [c.8682-9A>G Pathogenic 3 stars out of 4](https://dantelabs.com/genes/ush2a/variants/c-8682-9a-g) - [c.12295-3T>A Pathogenic 3 stars out of 4](https://dantelabs.com/genes/ush2a/variants/c-12295-3t-a) - [C319Y Pathogenic 3 stars out of 4](https://dantelabs.com/genes/ush2a/variants/c319y) - [C620F Pathogenic 3 stars out of 4](https://dantelabs.com/genes/ush2a/variants/c620f) - [C694Y Likely pathogenic 3 stars out of 4](https://dantelabs.com/genes/ush2a/variants/c694y) - [C1447Qfs\*29 Pathogenic 3 stars out of 4](https://dantelabs.com/genes/ush2a/variants/c1447qfs29) - [G1861S Pathogenic 3 stars out of 4](https://dantelabs.com/genes/ush2a/variants/g1861s) [All USH2A variants](https://dantelabs.com/genes/ush2a/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). USH2A C759F (c.2276G>T, rs80338902) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https\://dantelabs.com/genes/ush2a/variants/c759f Vancouver > Dante Labs. USH2A C759F (c.2276G>T, rs80338902) \[Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 \[cited 16 October 2026]. Available from: https\://dantelabs.com/genes/ush2a/variants/c759f Download citation [RIS](https://dantelabs.com/genes/ush2a/variants/c759f/cite.ris) [BibTeX](https://dantelabs.com/genes/ush2a/variants/c759f/cite.bib) [CSL-JSON](https://dantelabs.com/genes/ush2a/variants/c759f/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)