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NM_000138.5(FBN1):c.4243dup (p.Cys1415fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Dec 11, 2020)
Last evaluated:
Aug 10, 2020
Accession:
VCV000977687.2
Variation ID:
977687
Description:
1bp duplication
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NM_000138.5(FBN1):c.4243dup (p.Cys1415fs)

Allele ID
965855
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48472643-48472644 (GRCh38) GRCh38 UCSC
15: 48764840-48764841 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48472644dup
NC_000015.9:g.48764841dup
NM_000138.5:c.4243dup MANE Select NP_000129.3:p.Cys1415fs frameshift
... more HGVS
Protein change
C1415fs
Other names
-
Canonical SPDI
NC_000015.10:48472643:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Aug 10, 2020 RCV001255474.1
Pathogenic 1 criteria provided, single submitter Oct 28, 2019 RCV001286111.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBN1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4711 4806

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 10, 2020)
criteria provided, single submitter
Method: clinical testing
Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001431891.1
Submitted: (Sep 09, 2020)
Evidence details
Comment:
Variant summary: FBN1 c.4243dupT (p.Cys1415LeufsX16) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Pathogenic
(Oct 28, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001472637.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The FBN1 c.4243dupT; p.Cys1415fs variant, to our knowledge, is not reported in the medical literature or gene-specific databases. This variant is also absent from general … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jun 14, 2021