Variant
COCH G88E
NM_004086.3(COCH):c.263G>A (p.Gly88Glu)
- p.Gly88Glu
- p.G88E
- rs121908928
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 16 September 2026
- Expert panel
- ClinGen Hearing Loss Variant Curation Expert Panel
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
G88E is a missense variant in COCH: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as pathogenic for Nonsyndromic Genetic Hearing Loss (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Nonsyndromic Genetic Hearing LossClinVar VCV000006609 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 16 September 2026 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in COCH
G88E lies in exon 5 of the 12 in COCH's MANE Select transcript, NM_004086.3.
Molecular details
| Gene | COCH |
|---|---|
| Transcript | NM_004086.3MANE Select |
| Coding DNA change (HGVS c.) | c.263G>A |
| Protein change (HGVS p.) | p.Gly88Glup.G88E |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr14:30878834 G>A |
| Position (GRCh37) | chr14:31348040 G>A |
| dbSNP ID | rs121908928 (opens in a new tab) |
| ClinVar Variation ID | VCV000006609 (opens in a new tab) |
| ClinVar Allele ID | 21648 |
| ClinGen Allele Registry ID | CA253885 (opens in a new tab) |
| ClinVar name | NM_004086.3(COCH):c.263G>A (p.Gly88Glu) |
COCH G88E in other databases
Reports that look at this variant (1)
These Genome Test condition reports include G88E among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Hearing Loss and Deafness | Nonsyndromic Genetic Hearing Loss |
Other variants in COCH
- G87ALikely pathogenic3 stars out of 4
- G87ELikely pathogenic3 stars out of 4
- G87VLikely pathogenic3 stars out of 4
- G87WLikely pathogenic3 stars out of 4
- P51SPathogenic3 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). COCH G88E (c.263G>A, rs121908928) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/coch/variants/g88e
Dante Labs. COCH G88E (c.263G>A, rs121908928) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/coch/variants/g88e
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