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NM_007078.3(LDB3):c.254G>A (p.Arg85His) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 29, 2021
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000171988.4

Allele description [Variation Report for NM_007078.3(LDB3):c.254G>A (p.Arg85His)]

NM_007078.3(LDB3):c.254G>A (p.Arg85His)

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.254G>A (p.Arg85His)
HGVS:
  • NC_000010.11:g.86680090G>A
  • NG_008876.1:g.16527G>A
  • NM_001080114.2:c.254G>A
  • NM_001080115.2:c.254G>A
  • NM_001080116.1:c.254G>A
  • NM_001171610.2:c.254G>A
  • NM_001171611.2:c.254G>A
  • NM_001368063.1:c.254G>A
  • NM_001368064.1:c.254G>A
  • NM_001368065.1:c.254G>A
  • NM_001368066.1:c.254G>A
  • NM_001368067.1:c.254G>A
  • NM_001368068.1:c.254G>A
  • NM_007078.3:c.254G>AMANE SELECT
  • NP_001073583.1:p.Arg85His
  • NP_001073584.1:p.Arg85His
  • NP_001073585.1:p.Arg85His
  • NP_001165081.1:p.Arg85His
  • NP_001165082.1:p.Arg85His
  • NP_001354992.1:p.Arg85His
  • NP_001354993.1:p.Arg85His
  • NP_001354994.1:p.Arg85His
  • NP_001354995.1:p.Arg85His
  • NP_001354996.1:p.Arg85His
  • NP_001354997.1:p.Arg85His
  • NP_009009.1:p.Arg85His
  • LRG_385t2:c.254G>A
  • LRG_385:g.16527G>A
  • LRG_385p2:p.Arg85His
  • NC_000010.10:g.88439847G>A
  • NM_007078.2:c.254G>A
Protein change:
R85H
Links:
dbSNP: rs200420174
NCBI 1000 Genomes Browser:
rs200420174
Molecular consequence:
  • NM_001080114.2:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080115.2:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080116.1:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171610.2:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171611.2:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368063.1:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368064.1:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368065.1:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368066.1:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368067.1:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368068.1:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007078.3:c.254G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000054751Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq
criteria provided, single submitter

(Ng et al. (Circ Cardiovasc Genet. 2013))		Uncertain significance
(Jun 24, 2013) 		unknownresearch

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

SCV003816495Revvity Omics, Revvity
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jun 29, 2021) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot providednot providednot providedresearch
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Interpreting secondary cardiac disease variants in an exome cohort.

Ng D, Johnston JJ, Teer JK, Singh LN, Peller LC, Wynter JS, Lewis KL, Cooper DN, Stenson PD, Mullikin JC, Biesecker LG; NIH Intramural Sequencing Center (NISC) Comparative Sequencing Program..

Circ Cardiovasc Genet. 2013 Aug;6(4):337-46. doi: 10.1161/CIRCGENETICS.113.000039. Epub 2013 Jul 16.

PubMed [citation]
PMID:
23861362
PMCID:
PMC3887521

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]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Biesecker Lab/Clinical Genomics Section, National Institutes of Health - ClinSeq, SCV000054751.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot provided1not providednot providednot provided

From Revvity Omics, Revvity, SCV003816495.2

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

Last Updated: Mar 16, 2024