NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr) AND Cardiovascular phenotype

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 10, 2023
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV003162039.1

Allele description

NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr)

Gene:

LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

10q23.2

Genomic location:

Preferred name:

NM_007078.3(LDB3):c.18_23dup (p.Thr8_Gly9insLeuThr)

HGVS:

NC_000010.11:g.86668709_86668714dup
NG_008876.1:g.5146_5151dup
NM_001080114.2:c.18_23dup
NM_001080115.2:c.18_23dup
NM_001080116.1:c.18_23dup
NM_001171610.2:c.18_23dup
NM_001171611.2:c.18_23dup
NM_001368063.1:c.18_23dup
NM_001368064.1:c.18_23dup
NM_001368065.1:c.18_23dup
NM_001368066.1:c.18_23dup
NM_001368067.1:c.18_23dup
NM_001368068.1:c.18_23dup
NM_007078.3:c.18_23dupMANE SELECT
NP_001073583.1:p.Thr8_Gly9insLeuThr
NP_001073584.1:p.Thr8_Gly9insLeuThr
NP_001073585.1:p.Thr8_Gly9insLeuThr
NP_001165081.1:p.Thr8_Gly9insLeuThr
NP_001165082.1:p.Thr8_Gly9insLeuThr
NP_001354992.1:p.Thr8_Gly9insLeuThr
NP_001354993.1:p.Thr8_Gly9insLeuThr
NP_001354994.1:p.Thr8_Gly9insLeuThr
NP_001354995.1:p.Thr8_Gly9insLeuThr
NP_001354996.1:p.Thr8_Gly9insLeuThr
NP_001354997.1:p.Thr8_Gly9insLeuThr
NP_009009.1:p.Thr8_Gly9insLeuThr
NP_009009.1:p.Thr8_Gly9insLeuThr
LRG_385t1:c.18_23dup
LRG_385t2:c.18_23dup
LRG_385:g.5146_5151dup
LRG_385p1:p.Thr8_Gly9insLeuThr
LRG_385p2:p.Thr8_Gly9insLeuThr
NC_000010.10:g.88428461_88428462insTGACCC
NC_000010.10:g.88428466_88428471dup
NM_007078.2:c.18_23dup
NM_007078.2:c.18_23dupCCTGAC

Molecular consequence:

NM_001080114.2:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001080115.2:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001080116.1:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001171610.2:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001171611.2:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001368063.1:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001368064.1:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001368065.1:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001368066.1:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001368067.1:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_001368068.1:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]
NM_007078.3:c.18_23dup - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003909128	Ambry Genetics	criteria provided, single submitter (Ambry General Variant Classification Scheme_2022)	Uncertain significance (Feb 10, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003909128

Ambry Genetics

criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)

Uncertain significance
(Feb 10, 2023)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV003909128.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.18_23dupCCTGAC variant (also known as p.L7_T8dup), located in coding exon 1 of the LDB3 gene, results from an in-frame duplication of CCTGAC at nucleotide positions 18 to 23. This results in the duplication of 2 extra residues (LT) between codons 7 and 8. These amino acid positions are not well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Feb 20, 2024

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