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NM_000138.4(FBN1):c.6163+2dup

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Interpretation:
Conflicting interpretations of pathogenicity​

Pathogenic(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Jun 28, 2020
Accession:
VCV000200167.4
Variation ID:
200167
Description:
1bp duplication
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NM_000138.4(FBN1):c.6163+2dup

Allele ID
197658
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48441718-48441719 (GRCh38) GRCh38 UCSC
15: 48733915-48733916 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48441719dup
NC_000015.9:g.48733916dup
NM_000138.4:c.6163+2dup splice donor
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:48441718:A:AA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA304350
dbSNP: rs794728315
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Aug 4, 2017 RCV000590701.1
Uncertain significance 1 criteria provided, single submitter Jun 28, 2020 RCV001239673.2
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Jul 27, 2019 RCV000181670.2
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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
4774 4869

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 04, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695577.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The FBN1 c.6163+2dupT variant involves the alteration of a conserved intronic nucleotide. One in silico tool predicts a damaging outcome for this variant. … (more)
Uncertain significance
(Jul 27, 2019)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Color Health, Inc
Accession: SCV001348904.1
Submitted: (May 19, 2020)
Comment:
This variant alters the splice donor site in intron 50 of the FBN1 gene. Computational splicing tools predict that this variant may have a significant … (more)
Evidence details
Uncertain significance
(Jun 28, 2020)
criteria provided, single submitter
Method: clinical testing
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Invitae
Accession: SCV001412564.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change falls in intron 50 of the FBN1 gene. It does not directly change the encoded amino acid sequence of the FBN1 protein, … (more)
Pathogenic
(Jul 18, 2014)
criteria provided, single submitter
Method: clinical testing
Thoracic aortic aneurysms and aortic dissections
Allele origin: germline
GeneDx
Accession: SCV000233973.2
Submitted: (May 04, 2015)
Evidence details
Comment:
c.6163+2dupT: IVS50+2_50+3insT in intron 50 of the FBN1 gene (NM_000138.4)Although the c.6163+2_6163+3insT c.6163+2dupT mutation has not been reported as a disease-causing mutation or as a … (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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Title Author Journal Year Link
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs794728315...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 14, 2021