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NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000129050.8
Variation ID:
129050
Description:
single nucleotide variant
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NM_001999.4(FBN2):c.7296G>T (p.Gln2432His)

Allele ID
134496
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q23.3
Genomic location
5: 128278684 (GRCh38) GRCh38 UCSC
5: 127614376 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.128278684C>A
NC_000005.9:g.127614376C>A
NM_001999.4:c.7296G>T MANE Select NP_001990.2:p.Gln2432His missense
NG_008750.1:g.264360G>T
Protein change
Q2432H
Other names
p.Q2432H:CAG>CAT
Canonical SPDI
NC_000005.10:128278683:C:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00699 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00951
1000 Genomes Project 0.00699
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00907
Exome Aggregation Consortium (ExAC) 0.00268
The Genome Aggregation Database (gnomAD) 0.00781
The Genome Aggregation Database (gnomAD), exomes 0.00223
Links
ClinGen: CA288837
dbSNP: rs34600572
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 4 criteria provided, multiple submitters, no conflicts Sep 3, 2018 RCV000117031.7
Benign 2 criteria provided, multiple submitters, no conflicts Nov 25, 2020 RCV000332017.6
Benign 1 criteria provided, single submitter Jun 22, 2015 RCV000253722.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
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
Benign
(Mar 28, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000168516.12
Submitted: (Mar 26, 2018)
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
(Sep 03, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories
Accession: SCV000885443.2
Submitted: (Aug 05, 2019)
Evidence details
Benign
(Jan 12, 2018)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000452550.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jun 22, 2015)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000317895.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance;In silico models in agreement (benign);Seen in … (more)
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Congenital contractural arachnodactyly
Allele origin: germline
Invitae
Accession: SCV000563041.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000308648.1
Submitted: (Apr 28, 2016)
Evidence details
Benign
(Apr 21, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000151153.3
Submitted: (Oct 04, 2017)
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 rs34600572...

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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