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NM_001999.4(FBN2):c.488A>G (p.His163Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 30, 2020)
Last evaluated:
Feb 13, 2017
Accession:
VCV000387605.4
Variation ID:
387605
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.488A>G (p.His163Arg)

Allele ID
367911
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128527916 (GRCh38) GRCh38 UCSC
5: 127863609 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.127863609T>C
NC_000005.10:g.128527916T>C
NM_001999.4:c.488A>G MANE Select NP_001990.2:p.His163Arg missense
NG_008750.1:g.15127A>G
Protein change
H163R
Other names
-
Canonical SPDI
NC_000005.10:128527915:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
Links
ClinGen: CA16604692
dbSNP: rs1029299660
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 Jul 7, 2016 RCV000434872.1
Uncertain significance 1 criteria provided, single submitter Feb 13, 2017 RCV000621536.1
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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
Uncertain significance
(Jul 07, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000529698.4
Submitted: (Jan 29, 2019)
Evidence details
Comment:
A variant of uncertain significance has been identified in the FBN2 gene. The H163R variant has not been published as a pathogenic variant, nor has … (more)
Uncertain significance
(Feb 13, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000739003.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.H163R variant (also known as c.488A>G), located in coding exon 4 of the FBN2 gene, results from an A to G 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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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 rs1029299660...

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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 Feb 27, 2021