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NM_000138.4(FBN1):c.2892C>T (p.Asp964=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jul 15, 2021)
Last evaluated:
Aug 26, 2020
Accession:
VCV000413890.7
Variation ID:
413890
Description:
single nucleotide variant
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NM_000138.4(FBN1):c.2892C>T (p.Asp964=)

Allele ID
400691
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48490041 (GRCh38) GRCh38 UCSC
15: 48782238 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.48490041G>A
NC_000015.9:g.48782238G>A
NM_000138.4:c.2892C>T NP_000129.3:p.Asp964= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:48490040:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00140 (A)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00036
1000 Genomes Project 0.00140
The Genome Aggregation Database (gnomAD), exomes 0.00035
Trans-Omics for Precision Medicine (TOPMed) 0.00030
The Genome Aggregation Database (gnomAD) 0.00013
Links
ClinGen: CA049204
dbSNP: rs116945525
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 23, 2019 RCV000586312.5
Likely benign 1 criteria provided, single submitter Feb 14, 2018 RCV000731641.1
Benign 1 criteria provided, single submitter Aug 26, 2020 RCV001082629.2
Benign 1 criteria provided, single submitter Nov 3, 2018 RCV001185989.1
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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
Benign
(Jul 15, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000695497.1
Submitted: (Jan 25, 2018)
Evidence details
Publications
PubMed (1)
Comment:
Variant summary: The FBN1 c.2892C>T (p.Asp964Asp) variant involves the alteration of a non-conserved nucleotide located in TB domain, resulting in a synonymous change. One in … (more)
Likely benign
(Feb 14, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000859485.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Nov 03, 2018)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Color Health, Inc
Accession: SCV001352310.1
Submitted: (May 19, 2020)
Evidence details
Benign
(Aug 26, 2020)
criteria provided, single submitter
Method: clinical testing
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Invitae
Accession: SCV000557042.5
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(May 23, 2019)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000984230.2
Submitted: (Jul 15, 2021)
Evidence details

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
Mutation spectrum of the fibrillin-1 (FBN1) gene in Taiwanese patients with Marfan syndrome. Hung CC Annals of human genetics 2009 PMID: 19839986
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FBN1 - - - -

Text-mined citations for rs116945525...

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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 Aug 17, 2021