Variant
MYBPC3 R495W
NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)
- p.Arg495Trp
- p.R495W
- rs397515905
- ClinVar classification
- Likely pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 14 November 2025
- Expert panel
- ClinGen Cardiomyopathy 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
R495W is a missense variant in MYBPC3: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for Hypertrophic Cardiomyopathy (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Hypertrophic CardiomyopathyClinVar VCV000164114 (opens in a new tab) | Likely pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 14 November 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in MYBPC3
R495W lies in exon 17 of the 35 in MYBPC3's MANE Select transcript, NM_000256.3.
Molecular details
| Gene | MYBPC3 |
|---|---|
| Transcript | NM_000256.3MANE Select |
| Coding DNA change (HGVS c.) | c.1483C>T |
| Protein change (HGVS p.) | p.Arg495Trpp.R495W |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr11:47342719 G>A |
| Position (GRCh37) | chr11:47364270 G>A |
| dbSNP ID | rs397515905 (opens in a new tab) |
| ClinVar Variation ID | VCV000164114 (opens in a new tab) |
| ClinVar Allele ID | 175188 |
| ClinGen Allele Registry ID | CA010455 (opens in a new tab) |
| ClinVar name | NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp) |
MYBPC3 R495W in other databases
Reports that look at this variant (1)
These Genome Test condition reports include R495W among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Hypertrophic Cardiomyopathy | Hypertrophic Cardiomyopathy | Autosomal dominant |
Other variants in MYBPC3
- R495GLikely pathogenic3 stars out of 4
- R495QLikely pathogenic3 stars out of 4
- R502QPathogenic3 stars out of 4
- A105Pfs*54Pathogenic2 stars out of 4
- A364TPathogenic2 stars out of 4
- A482Gfs*49Pathogenic2 stars out of 4
- c.25+1G>APathogenic2 stars out of 4
- c.406+1G>ALikely pathogenic2 stars out of 4
- c.407-2A>GLikely pathogenic2 stars out of 4
- c.505+5G>CLikely pathogenic2 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). MYBPC3 R495W (c.1483C>T, rs397515905) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/mybpc3/variants/r495w
Dante Labs. MYBPC3 R495W (c.1483C>T, rs397515905) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/mybpc3/variants/r495w
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