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NM_000138.4(FBN1):c.3082+8del

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
8 (Most recent: Aug 24, 2021)
Last evaluated:
Dec 1, 2020
Accession:
VCV000036062.6
Variation ID:
36062
Description:
1bp deletion
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NM_000138.4(FBN1):c.3082+8del

Allele ID
44726
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48489843 (GRCh38) GRCh38 UCSC
15: 48782040 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48489843del
NC_000015.9:g.48782040del
NM_000138.4:c.3082+8delG
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:48489842:C:
Functional consequence
-
Global minor allele frequency (GMAF)
0.00319 ()

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00096
The Genome Aggregation Database (gnomAD) 0.00379
The Genome Aggregation Database (gnomAD), exomes 0.00085
Trans-Omics for Precision Medicine (TOPMed) 0.00368
1000 Genomes Project 0.00319
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00328
Links
ClinGen: CA013773
dbSNP: rs193922196
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 3 criteria provided, multiple submitters, no conflicts Aug 31, 2018 RCV000035161.5
Benign 1 criteria provided, single submitter Aug 18, 2014 RCV000181401.1
Benign 1 criteria provided, single submitter Dec 1, 2020 RCV000467956.6
Conflicting interpretations of pathogenicity 2 no assertion criteria provided Nov 7, 2017 RCV000029722.2
Likely benign 1 no assertion criteria provided - RCV001579674.1
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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 benign
(Apr 22, 2011)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000058802.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
3082+8delG in intron 24 of FBN1: This variant has not been previously reported, but is not expected to be of clinical significance because it is … (more)
Benign
(Aug 31, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000603635.2
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Dec 01, 2020)
criteria provided, single submitter
Method: clinical testing
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Invitae
Accession: SCV000557033.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Aug 18, 2014)
criteria provided, single submitter
Method: clinical testing
Thoracic aortic aneurysms and aortic dissections
Allele origin: germline
GeneDx
Accession: SCV000233703.2
Submitted: (May 04, 2015)
Evidence details
Comment:
The variant is found in TAAD panel(s).
Benign
(Nov 06, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000336718.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jul 17, 2014)
no assertion criteria provided
Method: clinical testing
Marfan's syndrome
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000052375.2
Submitted: (Nov 20, 2015)
Evidence details
Uncertain significance
(Nov 07, 2017)
no assertion criteria provided
Method: clinical testing
Marfan syndrome
Allele origin: germline
Center for Medical Genetics Ghent,University of Ghent
Accession: SCV000786920.1
Submitted: (Apr 25, 2018)
Evidence details
Likely benign
(-)
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: SCV001808109.1
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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FBN1 - - - -

Text-mined citations for rs193922196...

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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