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NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 30, 2020)
Last evaluated:
Sep 1, 2016
Accession:
VCV000519826.3
Variation ID:
519826
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.539G>A (p.Cys180Tyr)

Allele ID
509746
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128519362 (GRCh38) GRCh38 UCSC
5: 127855055 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128519362C>T
NC_000005.9:g.127855055C>T
NM_001999.4:c.539G>A MANE Select NP_001990.2:p.Cys180Tyr missense
NG_008750.1:g.23681G>A
Protein change
C180Y
Other names
-
Canonical SPDI
NC_000005.10:128519361:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA360756260
dbSNP: rs1554075372
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Sep 1, 2016 RCV000618247.1
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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
Likely pathogenic
(Sep 01, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000738981.3
Submitted: (Nov 30, 2020)
Evidence details
Publications
PubMed (1)
Comment:
The p.C180Y variant (also known as c.539G>A), located in coding exon 5 of the FBN2 gene, results from a G to A substitution at nucleotide … (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
Structure of the fibrillin-1 N-terminal domains suggests that heparan sulfate regulates the early stages of microfibril assembly. Yadin DA Structure (London, England : 1993) 2013 PMID: 24035709

Text-mined citations for rs1554075372...

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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 Dec 07, 2020