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NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 2, 2021)
Last evaluated:
Dec 14, 2020
Accession:
VCV000263401.8
Variation ID:
263401
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe)

Allele ID
258390
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128300906 (GRCh38) GRCh38 UCSC
5: 127636598 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128300906G>A
NC_000005.9:g.127636598G>A
NG_008750.1:g.242138C>T
NM_001999.4:c.6077C>T MANE Select NP_001990.2:p.Ser2026Phe missense
Protein change
S2026F
Other names
-
Canonical SPDI
NC_000005.10:128300905:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Trans-Omics for Precision Medicine (TOPMed) 0.00019
The Genome Aggregation Database (gnomAD) 0.00016
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Links
ClinGen: CA3394502
dbSNP: rs139668142
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 Sep 25, 2012 RCV000244909.1
Uncertain significance 1 criteria provided, single submitter May 25, 2019 RCV000685075.3
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000765798.1
Uncertain significance 1 criteria provided, single submitter Dec 14, 2020 RCV001589297.3
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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
(Sep 25, 2012)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000317733.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
There is insufficient or conflicting evidence for classification of this alteration.
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: SCV000897188.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30
Uncertain significance
(May 25, 2019)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV000812547.3
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces serine with phenylalanine at codon 2026 of the FBN2 protein (p.Ser2026Phe). The serine residue is highly conserved and there is a … (more)
Uncertain significance
(Dec 14, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV001823227.1
Submitted: (Sep 02, 2021)
Evidence details
Comment:
In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to … (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
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532
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 rs139668142...

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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