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NM_000138.4(FBN1):c.7383C>G (p.Asn2461Lys)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Dec 11, 2020)
Last evaluated:
Dec 7, 2019
Accession:
VCV000495645.3
Variation ID:
495645
Description:
single nucleotide variant
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NM_000138.4(FBN1):c.7383C>G (p.Asn2461Lys)

Allele ID
487544
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48425439 (GRCh38) GRCh38 UCSC
15: 48717636 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.9:g.48717636G>C
NC_000015.10:g.48425439G>C
NM_000138.4:c.7383C>G NP_000129.3:p.Asn2461Lys missense
... more HGVS
Protein change
N2461K
Other names
-
Canonical SPDI
NC_000015.10:48425438:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA058485
dbSNP: rs754047254
Varsome
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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 Jul 18, 2017 RCV000590273.1
Uncertain significance 1 criteria provided, single submitter Dec 18, 2018 RCV000793151.1
Likely pathogenic 1 criteria provided, single submitter Dec 7, 2019 RCV001286308.1
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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
4774 4869

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 18, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695597.1
Submitted: (Jan 25, 2018)
Evidence details
Comment:
Variant summary: The FBN1 c.7383C>G (p.Asn2461Lys) variant located in the EGF-like #38 domain (via InterPro) involves the alteration of a conserved nucleotide and 3/4 in … (more)
Uncertain significance
(Dec 18, 2018)
criteria provided, single submitter
Method: clinical testing
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Invitae
Accession: SCV000932492.1
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces asparagine with lysine at codon 2461 of the FBN1 protein (p.Asn2461Lys). The asparagine residue is highly conserved and there is a … (more)
Likely pathogenic
(Dec 07, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001472854.1
Submitted: (Dec 11, 2020)
Evidence details
Comment:
The FBN1 c.7383C>G; p.Asn2461Lys variant (rs754047254), to our knowledge, is not reported in the medical literature but is reported in the LOVD database (see link). … (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 rs754047254...

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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 Jun 14, 2021