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NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Jan 12, 2018
Accession:
VCV000264520.4
Variation ID:
264520
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser)

Allele ID
258413
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128393177 (GRCh38) GRCh38 UCSC
5: 127728870 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128393177C>T
NC_000005.9:g.127728870C>T
NG_008750.1:g.149866G>A
NM_001999.4:c.1423G>A MANE Select NP_001990.2:p.Gly475Ser missense
Protein change
G475S
Other names
-
Canonical SPDI
NC_000005.10:128393176:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (T)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00007
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA3395804
dbSNP: rs200440156
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 Jan 12, 2018 RCV000322354.2
Uncertain significance 1 criteria provided, single submitter Dec 1, 2015 RCV000246483.1
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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
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000452639.3
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
(Dec 01, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000320513.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.G475S variant (also known as c.1423G>A), located in coding exon 10 of the FBN2 gene, results from a G to A substitution at nucleotide … (more)
Uncertain significance
(Oct 05, 2016)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV000553200.2
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces glycine with serine at codon 475 of the FBN2 protein (p.Gly475Ser). The glycine residue is highly conserved and there is a … (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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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 rs200440156...

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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 08, 2021