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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004219988	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Oct 13, 2022)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18279815, 23375686, 32977124, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004219988

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Oct 13, 2022)

unknown

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical 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

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

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

Last Updated: Jan 6, 2024

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