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NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Aug 10, 2021)
Last evaluated:
May 24, 2021
Accession:
VCV000528399.3
Variation ID:
528399
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.2557A>G (p.Ile853Val)

Allele ID
521044
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128357393 (GRCh38) GRCh38 UCSC
5: 127693085 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128357393T>C
NC_000005.9:g.127693085T>C
NG_008750.1:g.185651A>G
NM_001999.4:c.2557A>G MANE Select NP_001990.2:p.Ile853Val missense
Protein change
I853V
Other names
-
Canonical SPDI
NC_000005.10:128357392:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA3395499
dbSNP: rs148598779
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Oct 24, 2017 RCV000633583.1
Likely benign 1 criteria provided, single submitter Nov 1, 2016 RCV000659606.1
Uncertain significance 1 criteria provided, single submitter May 24, 2021 RCV001554961.2
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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
Uncertain significance
(Oct 24, 2017)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV000754829.1
Submitted: (Apr 02, 2018)
Evidence details
Comment:
This sequence change replaces isoleucine with valine at codon 853 of the FBN2 protein (p.Ile853Val). The isoleucine residue is weakly conserved and there is a … (more)
Uncertain significance
(May 24, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001776302.1
Submitted: (Aug 10, 2021)
Evidence details
Comment:
Has not been previously published as pathogenic or benign to our knowledge; Not observed at significant frequency in large population cohorts (Lek et al., 2016); … (more)
Likely benign
(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: SCV000781445.1
Submitted: (Dec 20, 2017)
Evidence details

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 rs148598779...

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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 Sep 23, 2021