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NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 14, 2018)
Last evaluated:
Oct 31, 2018
Accession:
VCV000237085.1
Variation ID:
237085
Description:
single nucleotide variant
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NM_000138.4(FBN1):c.2206A>G (p.Asn736Asp)

Allele ID
242076
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48497353 (GRCh38) GRCh38 UCSC
15: 48789550 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48497353T>C
NC_000015.9:g.48789550T>C
NM_000138.4:c.2206A>G NP_000129.3:p.Asn736Asp missense
... more HGVS
Protein change
N736D
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
dbSNP: rs878853678
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 29, 2016 RCV000226819.2
Uncertain significance 1 criteria provided, single submitter Oct 31, 2018 RCV000763969.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBN1 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
3095 3159

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 29, 2016)
criteria provided, single submitter
Method: clinical testing
Marfan syndrome
Thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Invitae
Accession: SCV000283610.3
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change replaces asparagine with aspartic acid at codon 736 of the FBN1 protein (p.Asn736Asp). The asparagine residue is highly conserved and there is ... (more)
Uncertain significance
(Oct 31, 2018)
criteria provided, single submitter
Method: clinical testing
Acromicric dysplasia
Ectopia lentis, isolated, autosomal dominant
Marfan syndrome
Stiff skin syndrome
MASS syndrome
Weill-Marchesani syndrome 2
Geleophysic dysplasia 2
Marfan lipodystrophy syndrome
Allele origin: unknown
Fulgent Genetics,Fulgent Genetics
Accession: SCV000894920.1
Submitted: (Nov 14, 2018)
Evidence details
Publications
PubMed (1)
DOI: 10.1038/gim.2015.30

Citations for this variant

Title Author Journal Year Link
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Richards S Genetics in medicine : official journal of the American College of Medical Genetics 2015 PMID: 25741868

Record last updated Oct 11, 2019