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NM_007078.3(LDB3):c.79C>T (p.Leu27Phe) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Sep 19, 2017
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:
RCV000521458.1

Allele description [Variation Report for NM_007078.3(LDB3):c.79C>T (p.Leu27Phe)]

NM_007078.3(LDB3):c.79C>T (p.Leu27Phe)

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.79C>T (p.Leu27Phe)
HGVS:
  • NC_000010.11:g.86668770C>T
  • NG_008876.1:g.5207C>T
  • NM_001080114.2:c.79C>T
  • NM_001080115.2:c.79C>T
  • NM_001080116.1:c.79C>T
  • NM_001171610.2:c.79C>T
  • NM_001171611.2:c.79C>T
  • NM_001368063.1:c.79C>T
  • NM_001368064.1:c.79C>T
  • NM_001368065.1:c.79C>T
  • NM_001368066.1:c.79C>T
  • NM_001368067.1:c.79C>T
  • NM_001368068.1:c.79C>T
  • NM_007078.3:c.79C>TMANE SELECT
  • NP_001073583.1:p.Leu27Phe
  • NP_001073584.1:p.Leu27Phe
  • NP_001073585.1:p.Leu27Phe
  • NP_001165081.1:p.Leu27Phe
  • NP_001165082.1:p.Leu27Phe
  • NP_001354992.1:p.Leu27Phe
  • NP_001354993.1:p.Leu27Phe
  • NP_001354994.1:p.Leu27Phe
  • NP_001354995.1:p.Leu27Phe
  • NP_001354996.1:p.Leu27Phe
  • NP_001354997.1:p.Leu27Phe
  • NP_009009.1:p.Leu27Phe
  • LRG_385t1:c.79C>T
  • LRG_385t2:c.79C>T
  • LRG_385:g.5207C>T
  • LRG_385p2:p.Leu27Phe
  • NC_000010.10:g.88428527C>T
  • NM_007078.2:c.79C>T
Protein change:
L27F
Links:
dbSNP: rs1554844343
NCBI 1000 Genomes Browser:
rs1554844343
Molecular consequence:
  • NM_001080114.2:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080115.2:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001080116.1:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171610.2:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001171611.2:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368063.1:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368064.1:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368065.1:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368066.1:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368067.1:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001368068.1:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_007078.3:c.79C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000620995GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Sep 19, 2017) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000620995.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The L27F variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The L27F variant is not observed in large population cohorts (Lek et al., 2016). This variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 17, 2022