Variant
FBN1 M1384_G1385del
NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del)
- p.Met1384_Gly1385del
- p.M1384_G1385del
- rs2505517602
- ClinVar classification
- Pathogenic
- Review status
- 3 stars out of 4reviewed by expert panel
- Last evaluated
- 1 December 2022
- Expert panel
- ClinGen FBN1 Variant Curation Expert Panel, ClinGen
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
M1384_G1385del is an in-frame variant in FBN1: it adds or removes one or more amino acids without shifting how the rest of the gene's code is read. ClinVar classifies it as pathogenic for Marfan Syndrome (reviewed by expert panel).
ClinVar classifications
| Condition | Classification | Review status | Submissions | Last evaluated |
|---|---|---|---|---|
| Marfan SyndromeClinVar VCV002413170 (opens in a new tab) | Pathogenic | 3 stars out of 4reviewed by expert panel | 1 submission | 1 December 2022 |
Classifications as ClinVar records them in release 2026-10-12. ClinVar updates them as evidence is reviewed.
Where it lies in FBN1
M1384_G1385del lies in exon 34 of the 66 in FBN1's MANE Select transcript, NM_000138.5.
Molecular details
| Gene | FBN1 |
|---|---|
| Transcript | NM_000138.5MANE Select |
| Coding DNA change (HGVS c.) | c.4149_4154del |
| Protein change (HGVS p.) | p.Met1384_Gly1385delp.M1384_G1385del |
| Predicted consequence | In-frame insertion or deletiondisruptive_inframe_deletion (opens in a new tab) |
| Predicted impact | Moderate |
| Position (GRCh38) | chr15:48474310 TCCCATG>T |
| Position (GRCh37) | chr15:48766507 TCCCATG>T |
| dbSNP ID | rs2505517602 (opens in a new tab) |
| ClinVar Variation ID | VCV002413170 (opens in a new tab) |
| ClinVar Allele ID | 2401897 |
| ClinGen Allele Registry ID | CA915940949 (opens in a new tab) |
| ClinVar name | NM_000138.5(FBN1):c.4149_4154del (p.Met1384_Gly1385del) |
FBN1 M1384_G1385del in other databases
Reports that look at this variant (1)
These Genome Test condition reports include M1384_G1385del among the variants they look at.
| Report | Conditions | Inheritance |
|---|---|---|
| Marfan Like Syndromes | Marfan Syndrome | Autosomal dominant |
Other variants in FBN1
- c.1A>CPathogenic3 stars out of 4
- c.989-1G>CPathogenic3 stars out of 4
- c.4583-5A>GLikely pathogenic3 stars out of 4
- c.5065+2_5065+3insTPathogenic3 stars out of 4
- c.6453C>TPathogenic3 stars out of 4
- c.7204+1G>TPathogenic3 stars out of 4
- c.7330+3_7330+6delLikely pathogenic3 stars out of 4
- C67RLikely pathogenic3 stars out of 4
- C210YLikely pathogenic3 stars out of 4
- C304YLikely pathogenic3 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). FBN1 M1384_G1385del (c.4149_4154del, rs2505517602) (Version 2026.10.16-c6eea6bf). Retrieved 16 October 2026, from https://dantelabs.com/genes/fbn1/variants/m1384-g1385del
Dante Labs. FBN1 M1384_G1385del (c.4149_4154del, rs2505517602) [Internet]. Version 2026.10.16-c6eea6bf. 16 October 2026 [cited 16 October 2026]. Available from: https://dantelabs.com/genes/fbn1/variants/m1384-g1385del
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