Variant
COL3A1 P49A
NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala)
- p.Pro49Ala
- p.P49A
- rs1234344050
- ClinVar classification
- Likely pathogenic
- Review status
- 2 stars out of 4criteria provided, multiple submitters, no conflicts
- Last evaluated
- 5 March 2025
Data current to ClinVar release 2026-10-12 · Dante Labs data release 2026.10.16-c6eea6bfFacts last changed 16 October 2026
Summary
P49A is a missense variant in COL3A1: it changes a single amino acid in the protein the gene encodes. ClinVar classifies it as likely pathogenic for Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome (criteria provided, multiple submitters, no conflicts).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndromeClinVar VCV000619227 (opens in a new tab) | Likely pathogenic | 2 stars out of 4criteria provided, multiple submitters, no conflicts | 2 submissions | 5 March 2025 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in COL3A1
P49A lies in exon 2 of the 51 in COL3A1's MANE Select transcript, NM_000090.4.
Molecular details
| Gene | COL3A1 |
|---|---|
| Transcript | NM_000090.4MANE Select |
| Coding DNA change (HGVS c.) | c.145C>G |
| Protein change (HGVS p.) | p.Pro49Alap.P49A |
| Predicted consequence | Missensemissense_variant (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr2:188984825 C>G |
| Position (GRCh37) | chr2:189849551 C>G |
| dbSNP ID | rs1234344050 (opens in a new tab) |
| ClinVar Variation ID | VCV000619227 (opens in a new tab) |
| ClinVar Allele ID | 610625 |
| ClinGen Allele Registry ID | CA349846991 (opens in a new tab) |
| ClinVar name | NM_000090.4(COL3A1):c.145C>G (p.Pro49Ala) |
COL3A1 P49A in other databases
Reports that look at this variant (1)
These Genome Test condition reports include P49A among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Ehlers-Danlos Syndrome | Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | Autosomal recessive |
Other variants in COL3A1
- c.80-2A>TLikely pathogenic2 stars out of 4
- c.636+5G>APathogenic2 stars out of 4
- c.691-2A>GPathogenic2 stars out of 4
- c.852+2T>CLikely pathogenic2 stars out of 4
- c.897+1G>APathogenic/likely pathogenic2 stars out of 4
- c.1348-2A>GPathogenic/likely pathogenic2 stars out of 4
- c.1509+2T>CLikely pathogenic2 stars out of 4
- c.1662+1G>APathogenic2 stars out of 4
- c.2823+1G>APathogenic2 stars out of 4
- c.3417+1G>APathogenic2 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). COL3A1 P49A (c.145C>G, rs1234344050) (Version 2026.10.16-c6eea6bf). Retrieved 17 October 2026, from https://dantelabs.com/genes/col3a1/variants/p49a
Dante Labs. COL3A1 P49A (c.145C>G, rs1234344050) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 17 October 2026]. Available from: https://dantelabs.com/genes/col3a1/variants/p49a
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