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NM_000138.4(FBN1):c.2979C>T (p.Cys993=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(6);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
11 (Most recent: Aug 24, 2021)
Last evaluated:
Sep 13, 2019
Accession:
VCV000316381.6
Variation ID:
316381
Description:
single nucleotide variant
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NM_000138.4(FBN1):c.2979C>T (p.Cys993=)

Allele ID
339286
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48489954 (GRCh38) GRCh38 UCSC
15: 48782151 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48489954G>A
NC_000015.9:g.48782151G>A
NM_000138.4:c.2979C>T NP_000129.3:p.Cys993= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:48489953:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
1000 Genomes Project 0.00020
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
ClinGen: CA049502
dbSNP: rs150126098
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000279330.2
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000315004.2
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000336599.2
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000349848.2
Uncertain significance 2 criteria provided, single submitter Jan 12, 2018 RCV000392604.3
Likely benign 1 criteria provided, single submitter Jan 12, 2018 RCV000406376.2
Uncertain significance 1 criteria provided, single submitter Sep 13, 2019 RCV001213911.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 15, 2019 RCV000402736.3
Uncertain significance 1 no assertion criteria provided - RCV001579899.1
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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
4753 4848

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Stiff skin syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000392502.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Acromicric dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000392505.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000392506.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Marfan syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000392500.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Ectopia lentis, isolated, autosomal dominant
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000392503.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Weill-Marchesani syndrome
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000392507.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Geleophysic dysplasia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000392501.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Likely benign
(May 15, 2019)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Color Health, Inc
Accession: SCV001345173.1
Submitted: (May 19, 2020)
Evidence details
Uncertain significance
(Sep 13, 2019)
criteria provided, single submitter
Method: clinical testing
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Invitae
Accession: SCV001385567.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change affects codon 993 of the FBN1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid … (more)
Likely benign
(Nov 07, 2017)
no assertion criteria provided
Method: clinical testing
Marfan syndrome
Allele origin: germline
Center for Medical Genetics Ghent,University of Ghent
Accession: SCV000786907.1
Submitted: (Apr 25, 2018)
Evidence details
Uncertain significance
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, Amsterdam University Medical Center
Study: VKGL Data-share Consensus
Accession: SCV001808930.1
Submitted: (Aug 24, 2021)
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
Results of next-generation sequencing gene panel diagnostics including copy-number variation analysis in 810 patients suspected of heritable thoracic aortic disorders. Overwater E Human mutation 2018 PMID: 29907982

Text-mined citations for rs150126098...

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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 Aug 26, 2021