Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)

Help
Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 21, 2020
Accession:
VCV000263857.6
Variation ID:
263857
Description:
single nucleotide variant
Help

NM_001999.4(FBN2):c.1720A>G (p.Ile574Val)

Allele ID
258402
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128378774 (GRCh38) GRCh38 UCSC
5: 127714467 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128378774T>C
NC_000005.9:g.127714467T>C
NG_008750.1:g.164269A>G
NM_001999.4:c.1720A>G MANE Select NP_001990.2:p.Ile574Val missense
Protein change
I574V
Other names
-
Canonical SPDI
NC_000005.10:128378773:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00003
Links
ClinGen: CA3395739
dbSNP: rs768073096
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Sep 3, 2014 RCV000246071.1
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765802.1
Uncertain significance 1 criteria provided, single submitter Apr 21, 2020 RCV000810490.3
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Sep 03, 2014)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000319319.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.I574V variant (also known as c.1720A>G), located in coding exon 12 of the FBN2 gene<span style="background-color: initial;">in the cb EGF-like #05 domain<span style="background-color: initial;">, … (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Macular degeneration, early-onset
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000897192.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(Apr 21, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV000950693.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces isoleucine with valine at codon 574 of the FBN2 protein (p.Ile574Val). The isoleucine residue is highly conserved and there is a … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Text-mined citations for rs768073096...

Help
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