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NM_001999.4(FBN2):c.5675-9del

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000213239.4
Variation ID:
213239
Description:
1bp deletion
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NM_001999.4(FBN2):c.5675-9del

Allele ID
209716
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128305091 (GRCh38) GRCh38 UCSC
5: 127640783 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128305091del
NC_000005.9:g.127640783del
NG_008750.1:g.237953del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:128305090:G:
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.02868
The Genome Aggregation Database (gnomAD) 0.04700
The Genome Aggregation Database (gnomAD), exomes 0.01524
Trans-Omics for Precision Medicine (TOPMed) 0.04936
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.62328
Links
ClinGen: CA320382
dbSNP: rs112666443
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Jul 16, 2015 RCV000195992.4
Benign 2 criteria provided, multiple submitters, no conflicts Dec 7, 2020 RCV000317758.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBN2 - - GRCh38
GRCh37
1735 1754

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 03, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000250118.3
Submitted: (Sep 30, 2015)
Evidence details
Comment:
This variant was found in TAADV2-PANCARD,TAAD,TAADV2-1
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000308626.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jul 10, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000332647.4
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jul 16, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000269099.2
Submitted: (Mar 21, 2019)
Evidence details
Comment:
c.5675-9delC in intron 44 of FBN2: This variant is not expected to have clinical significance because it has been identified in 23% (1548/6764) of African … (more)
Benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Congenital Contractural Arachnodactyly
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000452576.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV000563025.4
Submitted: (Jan 07, 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=FBN2 - - - -

Text-mined citations for rs112666443...

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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 Sep 29, 2021