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NM_000527.5(LDLR):c.1540G>A (p.Glu514Lys) AND Familial hypercholesterolemia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 2020
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:
RCV001185716.3

Allele description [Variation Report for NM_000527.5(LDLR):c.1540G>A (p.Glu514Lys)]

NM_000527.5(LDLR):c.1540G>A (p.Glu514Lys)

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.1540G>A (p.Glu514Lys)
HGVS:
  • NC_000019.10:g.11113716G>A
  • NG_009060.1:g.29336G>A
  • NM_000527.5:c.1540G>AMANE SELECT
  • NM_001195798.2:c.1540G>A
  • NM_001195799.2:c.1417G>A
  • NM_001195800.2:c.1036G>A
  • NM_001195803.2:c.1159G>A
  • NP_000518.1:p.Glu514Lys
  • NP_001182727.1:p.Glu514Lys
  • NP_001182728.1:p.Glu473Lys
  • NP_001182729.1:p.Glu346Lys
  • NP_001182732.1:p.Glu387Lys
  • LRG_274t1:c.1540G>A
  • LRG_274:g.29336G>A
  • NC_000019.9:g.11224392G>A
  • NM_000527.4:c.1540G>A
Protein change:
E346K
Links:
dbSNP: rs1555805507
NCBI 1000 Genomes Browser:
rs1555805507
Molecular consequence:
  • NM_000527.5:c.1540G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1540G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1417G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1036G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1159G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypercholesterolemia
Identifiers:
MONDO: MONDO:0005439; MedGen: C0020445; OMIM: PS143890

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001351969Color Diagnostics, LLC DBA Color Health
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 27, 2020) 		germlineclinical testing

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

Help

Summary from all submissions

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

Citations

PubMed

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 Color Diagnostics, LLC DBA Color Health, SCV001351969.2

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

Description

This missense variant (also known as p.Glu493Lys in the mature protein) replaces glutamic acid with lysine at codon 514 of the LDLR protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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

Last Updated: Sep 1, 2024