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NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Aug 10, 2021)
Last evaluated:
May 6, 2021
Accession:
VCV000458771.12
Variation ID:
458771
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.5495G>A (p.Arg1832His)

Allele ID
455041
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128305876 (GRCh38) GRCh38 UCSC
5: 127641568 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128305876C>T
NC_000005.9:g.127641568C>T
NG_008750.1:g.237168G>A
NM_001999.4:c.5495G>A MANE Select NP_001990.2:p.Arg1832His missense
Protein change
R1832H
Other names
-
Canonical SPDI
NC_000005.10:128305875:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
The Genome Aggregation Database (gnomAD), exomes 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00013
The Genome Aggregation Database (gnomAD) 0.00016
Exome Aggregation Consortium (ExAC) 0.00002
Links
ClinGen: CA3394683
dbSNP: rs140276399
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 22, 2020 RCV000559761.5
Uncertain significance 2 criteria provided, multiple submitters, no conflicts May 6, 2021 RCV000998428.4
Uncertain significance 1 criteria provided, single submitter Nov 1, 2016 RCV000659626.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Uncertain significance
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
Connective tissue disease
Allele origin: germline
Center for Human Genetics, Inc,Center for Human Genetics, Inc
Accession: SCV000781466.1
Submitted: (Dec 20, 2017)
Evidence details
Uncertain significance
(Mar 22, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV000630238.4
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces arginine with histidine at codon 1832 of the FBN2 protein (p.Arg1832His). The arginine residue is moderately conserved and there is a … (more)
Uncertain significance
(Jan 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001154503.7
Submitted: (Jul 04, 2021)
Evidence details
Uncertain significance
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV001316241.1
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
(May 06, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001777306.1
Submitted: (Aug 10, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; In silico analysis supports that this missense variant has a deleterious effect on … (more)

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 rs140276399...

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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