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NM_001999.4(FBN2):c.4250A>G (p.His1417Arg)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Feb 21, 2021)
Last evaluated:
Dec 3, 2019
Accession:
VCV001030506.1
Variation ID:
1030506
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.4250A>G (p.His1417Arg)

Allele ID
1016468
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128330668 (GRCh38) GRCh38 UCSC
5: 127666360 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128330668T>C
NC_000005.9:g.127666360T>C
NG_008750.1:g.212376A>G
NM_001999.4:c.4250A>G MANE Select NP_001990.2:p.His1417Arg missense
Protein change
H1417R
Other names
-
Canonical SPDI
NC_000005.10:128330667:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
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 Dec 3, 2019 RCV001332075.1
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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
(Dec 03, 2019)
criteria provided, single submitter
Method: clinical testing
Macular degeneration, early-onset
Allele origin: unknown
Baylor Genetics
Accession: SCV001524277.1
Submitted: (Feb 21, 2021)
Evidence details
Comment:
This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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.

Record last updated Oct 08, 2021