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NM_001999.4(FBN2):c.4346-2A>T

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Dec 11, 2019)
Last evaluated:
Oct 10, 2019
Accession:
VCV000000522.2
Variation ID:
522
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.4346-2A>T

Allele ID
15561
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128328823 (GRCh38) GRCh38 UCSC
5: 127664515 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128328823T>A
NC_000005.9:g.127664515T>A
NG_008750.1:g.214221A>T
NM_001999.4:c.4346-2A>T MANE Select splice acceptor
Protein change
-
Other names
IVS33, A-T, -2
Canonical SPDI
NC_000005.10:128328822:T:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA281514
OMIM: 612570.0004
dbSNP: rs587776518
Varsome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 8900230 Fig. 4 to determine the location of this allele on the current reference sequence.
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Oct 10, 2019 RCV000000551.4
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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
Pathogenic
(Nov 01, 1996)
no assertion criteria provided
Method: literature only
CONTRACTURAL ARACHNODACTYLY, CONGENITAL
Allele origin: unknown
OMIM
Accession: SCV000020700.2
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Oct 10, 2019)
no assertion criteria provided
Method: literature only
Congenital contractural arachnodactyly
Allele origin: germline
GeneReviews
Accession: SCV001156237.1
Submitted: (Dec 11, 2019)
Evidence details
Publications
PubMed (2)
BookShelf: NBK1386

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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Title Author Journal Year Link
Congenital Contractural Arachnodactyly Callewaert B - 2019 PMID: 20301560
Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2. Wang M American journal of human genetics 1996 PMID: 8900230

Text-mined citations for rs587776518...

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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