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NM_001999.4(FBN2):c.-17C>G

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 26, 2018)
Last evaluated:
Feb 14, 2017
Accession:
VCV000258506.1
Variation ID:
258506
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.-17C>G

Allele ID
251665
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128537620 (GRCh38) GRCh38 UCSC
5: 127873313 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128537620G>C
NC_000005.9:g.127873313G>C
NM_001999.4:c.-17C>G MANE Select 5 prime UTR
NG_008750.1:g.5423C>G
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:128537619:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (C)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00165
Exome Aggregation Consortium (ExAC) 0.00054
The Genome Aggregation Database (gnomAD) 0.00197
The Genome Aggregation Database (gnomAD), exomes 0.00039
1000 Genomes Project 0.00100
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00155
Links
ClinGen: CA3396255
dbSNP: rs372089451
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 2 criteria provided, multiple submitters, no conflicts Feb 14, 2017 RCV000249082.2
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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
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000308586.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Feb 14, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000513010.4
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (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 rs372089451...

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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 Jun 23, 2021