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NM_007078.3(LDB3):c.273G>A (p.Thr91=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 18, 2020
Accession:
VCV000045542.8
Variation ID:
45542
Description:
single nucleotide variant
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NM_007078.3(LDB3):c.273G>A (p.Thr91=)

Allele ID
54708
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10q23.2
Genomic location
10: 86680109 (GRCh38) GRCh38 UCSC
10: 88439866 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000010.11:g.86680109G>A
NC_000010.10:g.88439866G>A
NM_007078.3:c.273G>A MANE Select NP_009009.1:p.Thr91= synonymous
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000010.11:86680108:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00439 (A)

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00014
The Genome Aggregation Database (gnomAD), exomes 0.00250
1000 Genomes Project 0.00439
Exome Aggregation Consortium (ExAC) 0.00284
The Genome Aggregation Database (gnomAD) 0.00006
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00023
Links
ClinGen: CA136591
dbSNP: rs45613039
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 Sep 2, 2016 RCV000038753.5
Benign 1 criteria provided, single submitter Dec 12, 2017 RCV000618355.1
Likely benign 1 criteria provided, single submitter - RCV000845362.3
Benign 1 criteria provided, single submitter Nov 18, 2020 RCV001084139.2
Benign 1 no assertion criteria provided Nov 11, 2014 RCV001293329.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LDB3 - - GRCh38
GRCh37
638 753

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Sep 02, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000523511.3
Submitted: (Nov 28, 2017)
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)
Likely benign
(-)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute
Accession: SCV000987416.1
Submitted: (Feb 19, 2019)
Evidence details
Benign
(Dec 12, 2017)
criteria provided, single submitter
Method: clinical testing
Cardiovascular phenotype
Allele origin: germline
Ambry Genetics
Accession: SCV000736170.3
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)
Benign
(Nov 18, 2020)
criteria provided, single submitter
Method: clinical testing
Myofibrillar myopathy, ZASP-related
Allele origin: germline
Invitae
Accession: SCV000557545.6
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Apr 28, 2015)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine
Accession: SCV000062431.5
Submitted: (Mar 21, 2019)
Evidence details
Comment:
p.Thr91Thr in exon 3 of LDB3: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue, … (more)
Benign
(Nov 11, 2014)
no assertion criteria provided
Method: case-control
Dilated cardiomyopathy 1C
Allele origin: unknown
Cytogenetics- Mohapatra Lab, Banaras Hindu University
Accession: SCV001481916.1
Submitted: (Dec 09, 2020)
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 rs45613039...

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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 Jul 07, 2021