NM_000527.5(LDLR):c.535G>A (p.Glu179Lys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 13, 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:
RCV003477848.1

Allele description [Variation Report for NM_000527.5(LDLR):c.535G>A (p.Glu179Lys)]

NM_000527.5(LDLR):c.535G>A (p.Glu179Lys)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.535G>A (p.Glu179Lys)
HGVS:
  • NC_000019.10:g.11105441G>A
  • NG_009060.1:g.21061G>A
  • NM_000527.4:c.535G>A
  • NM_000527.5:c.535G>AMANE SELECT
  • NM_001195798.2:c.535G>A
  • NM_001195799.2:c.412G>A
  • NM_001195800.2:c.314-1951G>A
  • NM_001195803.2:c.314-1124G>A
  • NP_000518.1:p.Glu179Lys
  • NP_001182727.1:p.Glu179Lys
  • NP_001182728.1:p.Glu138Lys
  • LRG_274t1:c.535G>A
  • LRG_274:g.21061G>A
  • NC_000019.9:g.11216117G>A
  • c.535G>A
Protein change:
E138K
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001758; dbSNP: rs879254567
NCBI 1000 Genomes Browser:
rs879254567
Molecular consequence:
  • NM_001195800.2:c.314-1951G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1124G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.535G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.412G>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
SCV004219988Quest Diagnostics Nichols Institute San Juan Capistrano
criteria provided, single submitter

(Quest Diagnostics criteria)		Uncertain significance
(Oct 13, 2022) 		unknownclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Evaluation of clinical diagnosis criteria of familial ligand defective apoB 100 and lipoprotein phenotype comparison between LDL receptor gene mutations affecting ligand-binding domain and the R3500Q mutation of the apoB gene in patients from a South European population.

Ejarque I, Real JT, Martinez-Hervas S, Chaves FJ, Blesa S, Garcia-Garcia AB, Millan E, Ascaso JF, Carmena R.

Transl Res. 2008 Mar;151(3):162-7. doi: 10.1016/j.trsl.2007.12.001. Epub 2008 Jan 7.

PubMed [citation]
PMID:
18279815

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

Bertolini S, Pisciotta L, Rabacchi C, Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S.

Atherosclerosis. 2013 Apr;227(2):342-8. doi: 10.1016/j.atherosclerosis.2013.01.007. Epub 2013 Jan 19.

PubMed [citation]
PMID:
23375686
See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004219988.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

It has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). In the published literature, the variant has been reported in an individual with Familial Hypercholesterolemia (PMID: 23375686 (2013)). Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded predictions that this variant is damaging. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Jan 6, 2024