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NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Sep 21, 2018
Accession:
VCV000547356.2
Variation ID:
547356
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.3467G>T (p.Cys1156Phe)

Allele ID
537770
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128338938 (GRCh38) GRCh38 UCSC
5: 127674630 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128338938C>A
NC_000005.9:g.127674630C>A
NG_008750.1:g.204106G>T
NM_001999.4:c.3467G>T MANE Select NP_001990.2:p.Cys1156Phe missense
Protein change
C1156F
Other names
-
Canonical SPDI
NC_000005.10:128338937:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1206843725
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts Sep 21, 2018 RCV000659613.2
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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
Pathogenic
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Center for Human Genetics, Inc,Center for Human Genetics, Inc
Accession: SCV000781452.1
Submitted: (Dec 20, 2017)
Evidence details
Likely pathogenic
(Sep 21, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV000949725.1
Submitted: (Mar 28, 2019)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces cysteine with phenylalanine at codon 1156 of the FBN2 protein (p.Cys1156Phe). The cysteine 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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Title Author Journal Year Link
The FBN2 gene: new mutations, locus-specific database (Universal Mutation Database FBN2), and genotype-phenotype correlations. Frédéric MY Human mutation 2009 PMID: 18767143
Fibrillin-1 misfolding and disease. Whiteman P Antioxidants & redox signaling 2006 PMID: 16677079
The solution structure of human epidermal growth factor. Cooke RM Nature 1987 PMID: 3495735
Epidermal growth factor. Location of disulfide bonds. Savage CR Jr The Journal of biological chemistry 1973 PMID: 4750422

Text-mined citations for rs1206843725...

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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