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NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Oct 26, 2020)
Last evaluated:
Sep 1, 2018
Accession:
VCV000432112.4
Variation ID:
432112
Description:
single nucleotide variant
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NM_000138.4(FBN1):c.6487G>T (p.Glu2163Ter)

Allele ID
426105
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48436970 (GRCh38) GRCh38 UCSC
15: 48729167 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48436970C>A
NC_000015.9:g.48729167C>A
NM_000138.4:c.6487G>T NP_000129.3:p.Glu2163Ter nonsense
... more HGVS
Protein change
E2163*
Other names
-
Canonical SPDI
NC_000015.10:48436969:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA392336293
dbSNP: rs1555395191
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Nov 21, 2017 RCV000498938.2
Pathogenic 1 criteria provided, single submitter Feb 19, 2018 RCV000702863.1
Isolated thoracic aortic aneurysm
Likely pathogenic 1 criteria provided, single submitter Sep 1, 2018 RCV001374838.1
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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
4774 4869

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Feb 19, 2018)
criteria provided, single submitter
Method: clinical testing
Marfan syndrome
Thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Invitae
Accession: SCV000831735.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change creates a premature translational stop signal (p.Glu2163*) in the FBN1 gene. It is expected to result in an absent or disrupted protein … (more)
Pathogenic
(Nov 21, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885434.1
Submitted: (Oct 10, 2018)
Evidence details
Likely pathogenic
(Aug 20, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000589797.3
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The E2163X likely pathogenic variant in the FBN1 gene has not been reported as a pathogenic variant or as a benign variant to our knowledge. … (more)
Likely pathogenic
(Sep 01, 2018)
criteria provided, single submitter
Method: research
Isolated thoracic aortic aneurysm
Allele origin: germline
Department of Vascular Biology,Beijing Anzhen Hospital
Accession: SCV001439522.1
Submitted: (Oct 26, 2020)
Evidence details

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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Text-mined citations for rs1555395191...

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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 Apr 28, 2021