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NM_000138.4(FBN1):c.7617C>T (p.Gly2539=)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(2);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
3 (Most recent: Nov 30, 2020)
Last evaluated:
Mar 7, 2019
Accession:
VCV000519744.4
Variation ID:
519744
Description:
single nucleotide variant
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NM_000138.4(FBN1):c.7617C>T (p.Gly2539=)

Allele ID
510539
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48421640 (GRCh38) GRCh38 UCSC
15: 48713837 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.9:g.48713837G>A
NC_000015.10:g.48421640G>A
NM_000138.4:c.7617C>T NP_000129.3:p.Gly2539= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:48421639:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00001
Links
ClinGen: CA490015699
dbSNP: rs1388794275
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Oct 26, 2016 RCV000620649.1
Uncertain significance 1 criteria provided, single submitter Oct 11, 2017 RCV000757278.1
Likely benign 1 criteria provided, single submitter Mar 7, 2019 RCV001186060.1
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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
(Oct 11, 2017)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885437.1
Submitted: (Oct 10, 2018)
Evidence details
Likely benign
(Mar 07, 2019)
criteria provided, single submitter
Method: clinical testing
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Color Health, Inc
Accession: SCV001352398.1
Submitted: (May 19, 2020)
Evidence details
Likely benign
(Oct 26, 2016)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000738848.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign

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 rs1388794275...

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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 Feb 03, 2021