Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn)

Help
Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
Apr 8, 2019
Accession:
VCV000213330.4
Variation ID:
213330
Description:
single nucleotide variant
Help

NM_001999.4(FBN2):c.4594G>A (p.Asp1532Asn)

Allele ID
209736
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128318879 (GRCh38) GRCh38 UCSC
5: 127654571 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128318879C>T
NC_000005.9:g.127654571C>T
NG_008750.1:g.224165G>A
NM_001999.4:c.4594G>A MANE Select NP_001990.2:p.Asp1532Asn missense
Protein change
D1532N
Other names
-
Canonical SPDI
NC_000005.10:128318878:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA321477
dbSNP: rs863223574
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Jul 10, 2014 RCV000197040.1
Uncertain significance 1 criteria provided, single submitter Apr 8, 2019 RCV001220936.2
Help
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

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jul 10, 2014)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000250213.10
Submitted: (Jan 29, 2019)
Evidence details
Comment:
p.Asp1532Asn (GAT>AAT): c.4594 G>A in exon 35 of the FBN2 gene (NM_001999.3) The D1532N variant has not been published as a mutation, nor has it … (more)
Uncertain significance
(Apr 08, 2019)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV001392950.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (2)
Comment:
This sequence change replaces aspartic acid with asparagine at codon 1532 of the FBN2 protein (p.Asp1532Asn). The aspartic acid residue is highly conserved and there … (more)

Functional evidence

Help
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

Help
Title Author Journal Year Link
Aberrant 5' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization. Buratti E Nucleic acids research 2007 PMID: 17576681
Statistical features of human exons and their flanking regions. Zhang MQ Human molecular genetics 1998 PMID: 9536098

Text-mined citations for rs863223574...

Help
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