NM_007078.3(LDB3):c.273G>A (p.Thr91=) AND not provided

Clinical significance:Likely benign

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:

Allele description [Variation Report for NM_007078.3(LDB3):c.273G>A (p.Thr91=)]

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

LDB3:LIM domain binding 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Genomic location:
Preferred name:
NM_007078.3(LDB3):c.273G>A (p.Thr91=)
  • NC_000010.11:g.86680109G>A
  • NG_008876.1:g.16546G>A
  • NM_001080114.2:c.273G>A
  • NM_001080115.2:c.273G>A
  • NM_001080116.1:c.273G>A
  • NM_001171610.2:c.273G>A
  • NM_001171611.2:c.273G>A
  • NM_001368063.1:c.273G>A
  • NM_001368064.1:c.273G>A
  • NM_001368065.1:c.273G>A
  • NM_001368066.1:c.273G>A
  • NM_001368067.1:c.273G>A
  • NM_001368068.1:c.273G>A
  • NM_007078.3:c.273G>AMANE SELECT
  • NP_001073583.1:p.Thr91=
  • NP_001073584.1:p.Thr91=
  • NP_001073585.1:p.Thr91=
  • NP_001165081.1:p.Thr91=
  • NP_001165082.1:p.Thr91=
  • NP_001354992.1:p.Thr91=
  • NP_001354993.1:p.Thr91=
  • NP_001354994.1:p.Thr91=
  • NP_001354995.1:p.Thr91=
  • NP_001354996.1:p.Thr91=
  • NP_001354997.1:p.Thr91=
  • NP_009009.1:p.Thr91=
  • LRG_385t1:c.273G>A
  • LRG_385t2:c.273G>A
  • LRG_385:g.16546G>A
  • LRG_385p2:p.Thr91=
  • NC_000010.10:g.88439866G>A
  • NM_007078.2:c.273G>A
  • c.273G>A
  • p.Thr91Thr
dbSNP: rs45613039
NCBI 1000 Genomes Browser:
Molecular consequence:
  • NM_001080114.2:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001080115.2:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001080116.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171610.2:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001171611.2:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368063.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368064.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368065.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368066.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368067.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001368068.1:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_007078.3:c.273G>A - synonymous variant - [Sequence Ontology: SO:0001819]


MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
SCV000987416Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institutecriteria provided, single submitter
Likely benigngermlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing



Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

Details of each submission

From Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute, SCV000987416.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 24, 2021

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