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NM_001999.4(FBN2):c.4223-178A>G

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Apr 12, 2019)
Last evaluated:
Jun 14, 2018
Accession:
VCV000672320.1
Variation ID:
672320
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.4223-178A>G

Allele ID
660967
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128330873 (GRCh38) GRCh38 UCSC
5: 127666565 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128330873T>C
NC_000005.9:g.127666565T>C
NM_001999.4:c.4223-178A>G MANE Select
NG_008750.1:g.212171A>G
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:128330872:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
0.24221 (C)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.29025
Trans-Omics for Precision Medicine (TOPMed) 0.30668
1000 Genomes Project 0.24221
Links
dbSNP: rs469722
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Jun 14, 2018 RCV000831571.1
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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
Benign
(Jun 14, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000973324.1
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)

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 rs469722...

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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