NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) AND not provided

Germline classification:: Benign (5 submissions)
Last evaluated:: Apr 1, 2022
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:: RCV001530010.16

Allele description [Variation Report for NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)]

NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q23.2

Genomic location:

Preferred name:

NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)

Other names:

p.A156T:GCC>ACC

HGVS:

NC_000010.11:g.86681580G>A
NG_008876.1:g.18017G>A
NM_001080114.2:c.321+1423G>A
NM_001080115.2:c.466G>A
NM_001080116.1:c.321+1423G>A
NM_001171610.2:c.466G>A
NM_001171611.2:c.466G>A
NM_001368063.1:c.466G>A
NM_001368064.1:c.466G>A
NM_001368065.1:c.466G>A
NM_001368066.1:c.321+1423G>A
NM_001368067.1:c.321+1423G>A
NM_001368068.1:c.321+1423G>A
NM_007078.3:c.466G>AMANE SELECT
NP_001073584.1:p.Ala156Thr
NP_001165081.1:p.Ala156Thr
NP_001165082.1:p.Ala156Thr
NP_001354992.1:p.Ala156Thr
NP_001354993.1:p.Ala156Thr
NP_001354994.1:p.Ala156Thr
NP_009009.1:p.Ala156Thr
LRG_385t1:c.466G>A
LRG_385t2:c.321+1423G>A
LRG_385:g.18017G>A
NC_000010.10:g.88441337G>A
NM_001171610.1:c.466G>A
NM_007078.2:c.466G>A

Protein change:

A156T

Links:

dbSNP: rs200596619

NCBI 1000 Genomes Browser:

rs200596619

Molecular consequence:

NM_001080114.2:c.321+1423G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001080116.1:c.321+1423G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368066.1:c.321+1423G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368067.1:c.321+1423G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001368068.1:c.321+1423G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001080115.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001171610.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001171611.2:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368063.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368064.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001368065.1:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_007078.3:c.466G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001744491	Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001932566	Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001953970	Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV001976021	Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus See additional submitters Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	no assertion criteria provided	Likely benign	germline	clinical testing
SCV004127001	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Apr 1, 2022)	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	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001744491.3

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

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

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001932566.1

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

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

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001953970.1

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

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

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001976021.1

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

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

From CeGaT Center for Human Genetics Tuebingen, SCV004127001.10

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

Description

LDB3: BP4, BS1, BS2

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

Last Updated: Oct 20, 2024

ClinVar

Relating variation to medicine

NM_007078.3(LDB3):c.466G>A (p.Ala156Thr) AND not provided

Allele description [Variation Report for NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)]

NM_007078.3(LDB3):c.466G>A (p.Ala156Thr)

Condition(s)

Recent activity

Assertion and evidence details

Summary from all submissions

Details of each submission

From Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen - VKGL Data-share Consensus, SCV001744491.3

From Genome Diagnostics Laboratory, University Medical Center Utrecht - VKGL Data-share Consensus, SCV001932566.1

From Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ - VKGL Data-share Consensus, SCV001953970.1

From Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center - VKGL Data-share Consensus, SCV001976021.1

From CeGaT Center for Human Genetics Tuebingen, SCV004127001.10

Description