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NM_001999.4(FBN2):c.2249-19A>G

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 5, 2019)
Last evaluated:
Feb 28, 2019
Accession:
VCV000258509.3
Variation ID:
258509
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.2249-19A>G

Allele ID
251662
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128366449 (GRCh38) GRCh38 UCSC
5: 127702142 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128366449T>C
NC_000005.9:g.127702142T>C
NG_008750.1:g.176594A>G
NM_001999.4:c.2249-19A>G MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:128366448:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (C)

Allele frequency
1000 Genomes Project 0.00020
The Genome Aggregation Database (gnomAD), exomes 0.00008
Exome Aggregation Consortium (ExAC) 0.00012
The Genome Aggregation Database (gnomAD) 0.00026
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
Trans-Omics for Precision Medicine (TOPMed) 0.00025
Links
ClinGen: CA3395601
dbSNP: rs193091226
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 28, 2019 RCV000242340.2
Likely benign 1 criteria provided, single submitter Nov 1, 2016 RCV000659601.1
Likely benign 1 criteria provided, single submitter Apr 4, 2018 RCV000841391.1
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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
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000308596.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Nov 01, 2016)
criteria provided, single submitter
Method: clinical testing
Connective tissue disease
Allele origin: germline
Center for Human Genetics, Inc,Center for Human Genetics, Inc
Accession: SCV000781440.1
Submitted: (Dec 20, 2017)
Evidence details
Likely benign
(Apr 04, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000983354.1
Submitted: (Apr 12, 2019)
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)
Likely benign
(Feb 28, 2019)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001157327.1
Submitted: (Aug 05, 2019)
Evidence details

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 rs193091226...

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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