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NM_001999.4(FBN2):c.1011C>T (p.Thr337=)

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Interpretation:
Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Sep 30, 2021)
Last evaluated:
Nov 19, 2019
Accession:
VCV000519856.8
Variation ID:
519856
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.1011C>T (p.Thr337=)

Allele ID
509742
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128408741 (GRCh38) GRCh38 UCSC
5: 127744434 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128408741G>A
NC_000005.9:g.127744434G>A
NG_008750.1:g.134302C>T
NM_001999.4:c.1011C>T MANE Select NP_001990.2:p.Thr337= synonymous
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:128408740:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00002
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA3395913
dbSNP: rs781086796
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 May 11, 2017 RCV000621824.1
Likely benign 1 criteria provided, single submitter Nov 19, 2019 RCV000869524.3
Likely benign 2 no assertion criteria provided - RCV001724096.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
FBN2 - - GRCh38
GRCh37
1735 1754

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(May 11, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000739029.3
Submitted: (Nov 30, 2020)
Evidence details
Comment:
Synonymous alterations with insufficient evidence to classify as benign
Likely benign
(Nov 19, 2019)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV001010958.3
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Human Genetics - Radboudumc,Radboudumc
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001958690.1
Submitted: (Sep 30, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not provided
Allele origin: germline
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001969239.1
Submitted: (Sep 21, 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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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 rs781086796...

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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 Oct 08, 2021