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NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Sep 23, 2021)
Last evaluated:
Sep 20, 2020
Accession:
VCV000213248.9
Variation ID:
213248
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.6841A>T (p.Ile2281Phe)

Allele ID
209690
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128287347 (GRCh38) GRCh38 UCSC
5: 127623039 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128287347T>A
NC_000005.9:g.127623039T>A
NG_008750.1:g.255697A>T
NM_001999.4:c.6841A>T MANE Select NP_001990.2:p.Ile2281Phe missense
Protein change
I2281F
Other names
-
Canonical SPDI
NC_000005.10:128287346:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00240 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00171
The Genome Aggregation Database (gnomAD), exomes 0.00047
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00177
1000 Genomes Project 0.00240
Exome Aggregation Consortium (ExAC) 0.00055
Links
ClinGen: CA320712
dbSNP: rs115223340
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Apr 25, 2019 RCV000196293.5
Likely benign 1 criteria provided, single submitter Jun 20, 2016 RCV000618140.1
Benign 1 criteria provided, single submitter Sep 20, 2020 RCV000757287.5
Likely benign 2 no assertion criteria provided - RCV001701558.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Likely benign
(Aug 22, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000250127.8
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Apr 25, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885446.2
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Sep 20, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV000754883.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jun 20, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000738944.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
In silico models in agreement (benign);Subpopulation frequency in support of benign classification
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Genome Diagnostics Laboratory, University Medical Center Utrecht
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001930518.1
Submitted: (Sep 23, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001965209.1
Submitted: (Sep 21, 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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Text-mined citations for rs115223340...

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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 Oct 07, 2021