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NM_000138.4(FBN1):c.1960+30G>A

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 3, 2020
Accession:
VCV000255286.3
Variation ID:
255286
Description:
single nucleotide variant
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NM_000138.4(FBN1):c.1960+30G>A

Allele ID
255273
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q21.1
Genomic location
15: 48504995 (GRCh38) GRCh38 UCSC
15: 48797192 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_778t1:c.1960+30G>A
NC_000015.10:g.48504995C>T
NC_000015.9:g.48797192C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000015.10:48504994:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.02216 (T)

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00728
The Genome Aggregation Database (gnomAD), exomes 0.00603
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.01979
1000 Genomes Project 0.02216
The Genome Aggregation Database (gnomAD) 0.01787
Trans-Omics for Precision Medicine (TOPMed) 0.01977
Links
ClinGen: CA046387
dbSNP: rs25459
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 3 criteria provided, multiple submitters, no conflicts Jul 5, 2018 RCV000243110.2
Benign 1 criteria provided, single submitter Jun 18, 2018 RCV000829367.1
Benign 1 criteria provided, single submitter Dec 3, 2020 RCV001520674.1
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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
4753 4848

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000302539.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Jul 04, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics
Accession: SCV000862059.1
Submitted: (Sep 19, 2018)
Evidence details
Other databases
http://www.egl-eurofins.com/emvc…
Benign
(Jun 18, 2018)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000971088.1
Submitted: (Apr 12, 2019)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Benign
(Jul 05, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV001158602.1
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Dec 03, 2020)
criteria provided, single submitter
Method: clinical testing
Marfan syndrome
Familial thoracic aortic aneurysm and aortic dissection
Allele origin: germline
Invitae
Accession: SCV001729841.1
Submitted: (Jan 07, 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
http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=FBN1 - - - -

Text-mined citations for rs25459...

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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 23, 2021