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NM_001999.4(FBN2):c.952+4177C>T

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Interpretation:
Benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Oct 22, 2019)
Last evaluated:
May 28, 2019
Accession:
VCV000802154.1
Variation ID:
802154
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.952+4177C>T

Allele ID
790513
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128442304 (GRCh38) GRCh38 UCSC
5: 127777997 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128442304G>A
NC_000005.9:g.127777997G>A
NG_008750.1:g.100739C>T
NM_001999.4:c.952+4177C>T MANE Select
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:128442303:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.13439 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.16254
1000 Genomes Project 0.13439
Exome Aggregation Consortium (ExAC) 0.15653
The Genome Aggregation Database (gnomAD) 0.16686
Trans-Omics for Precision Medicine (TOPMed) 0.16756
Links
dbSNP: rs13180243
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 May 28, 2019 RCV000987596.1
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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
(May 28, 2019)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: unknown
Mendelics
Accession: SCV001136969.1
Submitted: (Oct 22, 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 rs13180243...

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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