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NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely pathogenic(1);Uncertain significance(3)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Feb 8, 2019
Accession:
VCV000200124.5
Variation ID:
200124
Description:
single nucleotide variant
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NM_000138.4(FBN1):c.7994A>G (p.Asn2665Ser)

Allele ID
197589
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48415593 (GRCh38) GRCh38 UCSC
15: 48707790 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48415593T>C
NC_000015.9:g.48707790T>C
NM_000138.4:c.7994A>G NP_000129.3:p.Asn2665Ser missense
... more HGVS
Protein change
N2665S
Other names
p.N2665S:AAT>AGT
Canonical SPDI
NC_000015.10:48415592:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Exome Aggregation Consortium (ExAC) 0.00001
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA017488
dbSNP: rs763173031
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 Jan 26, 2019 RCV000533304.3
Uncertain significance 1 criteria provided, single submitter Feb 8, 2019 RCV001178819.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations Aug 22, 2017 RCV000757272.2
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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
4753 4848

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Aug 03, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885428.1
Submitted: (Oct 10, 2018)
Evidence details
Uncertain significance
(Feb 08, 2019)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Color Health, Inc
Accession: SCV001343353.1
Submitted: (May 19, 2020)
Comment:
Variant of Uncertain Significance due to insufficient evidence: This missense variant replaces asparagine with serine at codon 2665 of the FBN1 protein. Computational prediction tools … (more)
Evidence details
Uncertain significance
(Jan 26, 2019)
criteria provided, single submitter
Method: clinical testing
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Invitae
Accession: SCV000628000.3
Submitted: (Jan 07, 2021)
Evidence details
Comment:
This sequence change replaces asparagine with serine at codon 2665 of the FBN1 protein (p.Asn2665Ser). The asparagine residue is highly conserved and there is a … (more)
Uncertain significance
(Aug 22, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000233925.13
Submitted: (Jan 29, 2019)
Evidence details
Comment:
The N2665S variant has not been published as a mutation or reported as a benign polymorphism to our knowledge. The N2665S variant was not observed … (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 rs763173031...

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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 Apr 08, 2021