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NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Jan 29, 2019)
Last evaluated:
Aug 3, 2018
Accession:
VCV000218359.2
Variation ID:
218359
Description:
single nucleotide variant
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NM_006329.3(FBLN5):c.268G>A (p.Gly90Ser)

Allele ID
215086
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.12
Genomic location
14: 91937058 (GRCh38) GRCh38 UCSC
14: 92403402 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.92403402C>T
NC_000014.9:g.91937058C>T
NM_006329.3:c.268G>A NP_006320.2:p.Gly90Ser missense
... more HGVS
Protein change
G90S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
The Genome Aggregation Database (gnomAD), exomes 0.00038
Exome Aggregation Consortium (ExAC) 0.00046
Trans-Omics for Precision Medicine (TOPMed) 0.00040
The Genome Aggregation Database (gnomAD) 0.00019
Links
ClinGen: CA213355
UniProtKB: Q9UBX5#VAR_076290
OMIM: 604580.0013
dbSNP: rs144288844
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000288309.1
Uncertain significance 1 criteria provided, single submitter Aug 3, 2018 RCV000521928.2
Pathogenic 1 no assertion criteria provided Jun 1, 2011 RCV000202614.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBLN5 - - GRCh38
GRCh37
102 119

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Macular Degeneration
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000389483.2
Submitted: (Oct 18, 2016)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Aug 03, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000617418.2
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The G90S variant in the FBLN5 gene has previously been reported in two siblings with spinal Charcot-Marie-Tooth as well as three of their relatives who ... (more)
Pathogenic
(Jun 01, 2011)
no assertion criteria provided
Method: literature only
NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION
Allele origin: germline
OMIM
Accession: SCV000257548.2
Submitted: (Dec 21, 2015)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Fibulin-5 mutations link inherited neuropathies, age-related macular degeneration and hyperelastic skin. Auer-Grumbach M Brain : a journal of neurology 2011 PMID: 21576112

Record last updated Oct 27, 2019