NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys) AND Familial hypercholesterolemia 1

Clinical significance:Likely pathogenic (Last evaluated: Nov 5, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
6 submissions [Details]
Record status:
current
Accession:
RCV000210833.6

Allele description [Variation Report for NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)]

NM_000527.5(LDLR):c.1252G>A (p.Glu418Lys)

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.1252G>A (p.Glu418Lys)
HGVS:
  • NC_000019.10:g.11113343G>A
  • NG_009060.1:g.28963G>A
  • NM_000527.5:c.1252G>AMANE SELECT
  • NM_001195798.2:c.1252G>A
  • NM_001195799.2:c.1129G>A
  • NM_001195800.2:c.748G>A
  • NM_001195803.2:c.871G>A
  • NP_000518.1:p.Glu418Lys
  • NP_000518.1:p.Glu418Lys
  • NP_001182727.1:p.Glu418Lys
  • NP_001182728.1:p.Glu377Lys
  • NP_001182729.1:p.Glu250Lys
  • NP_001182732.1:p.Glu291Lys
  • LRG_274t1:c.1252G>A
  • LRG_274:g.28963G>A
  • NC_000019.9:g.11224019G>A
  • NM_000527.4(LDLR):c.1252G>A
  • NM_000527.4:c.1252G>A
  • c.1252G>A
Protein change:
E250K
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000942;
Molecular consequence:
  • NM_000527.5:c.1252G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1252G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1129G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.748G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.871G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Familial hypercholesterolemia 1 (FHCL1)
Synonyms:
LDL RECEPTOR DISORDER; Hyperlipoproteinemia Type IIa; HYPER-LOW-DENSITY-LIPOPROTEINEMIA; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007750; MedGen: C0745103; Orphanet: 391665; OMIM: 143890

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000267119SNPediacriteria provided, single submitter
Likely pathogenic
(Apr 3, 2016)
germlineliterature only

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

SCV000295328LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely pathogenic
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000540807Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation

See additional submitters

criteria provided, single submitter
Likely pathogenic
(Nov 5, 2016)
unknownclinical testing

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

SCV000588569Laboratory of Genetics and Molecular Cardiology, University of São Paulo - HipercolBrasilcriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

SCV000748144Iberoamerican FH Networkcriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

SCV002022660PerkinElmer Genomicsno assertion criteria providedLikely pathogenic
(Dec 19, 2019)
germlineclinical testing

Description

Variant present in the database from Uruguay

SCV000748144

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing, research
not providedgermlineyes1not providednot provided1not providedliterature only
Caucasianunknownyes11not provided3964not providedclinical testing

Citations

PubMed

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Khera AV, Won HH, Peloso GM, Lawson KS, Bartz TM, Deng X, van Leeuwen EM, Natarajan P, Emdin CA, Bick AG, Morrison AC, Brody JA, Gupta N, Nomura A, Kessler T, Duga S, Bis JC, van Duijn CM, Cupples LA, Psaty B, Rader DJ, Danesh J, et al.

J Am Coll Cardiol. 2016 Jun 7;67(22):2578-89. doi: 10.1016/j.jacc.2016.03.520. Epub 2016 Apr 3.

PubMed [citation]
PMID:
27050191
PMCID:
PMC5405769

Molecular genetic analysis of familial hypercholesterolemia: spectrum and regional difference of LDL receptor gene mutations in Japanese population.

Yu W, Nohara A, Higashikata T, Lu H, Inazu A, Mabuchi H.

Atherosclerosis. 2002 Dec;165(2):335-42. Erratum in: Atherosclerosis. 2004 Jun;174(2):399-400.

PubMed [citation]
PMID:
12417285
See all PubMed Citations (4)

Details of each submission

From SNPedia, SCV000267119.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From LDLR-LOVD, British Heart Foundation, SCV000295328.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

From Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation, SCV000540807.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes3964Whole bloodnot provided1not provided1not provided

From Laboratory of Genetics and Molecular Cardiology, University of São Paulo - HipercolBrasil, SCV000588569.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
2not providednot providednot providednot providedresearch PubMed (2)

Description

"Assay description:Comp htz (with c.1845+2T>C) patients' fibroblasts, 125I-LDL, just binding"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Iberoamerican FH Network, SCV000748144.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
2not providednot providednot providednot providedresearch PubMed (2)

Description

"Assay Description:Comp htz (with c.1845+2T>C) patients' fibroblasts, 125I-LDL, just binding"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From PerkinElmer Genomics, SCV002022660.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 4, 2021

Support Center