NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) AND Familial hypercholesterolemia 1

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Oct 31, 2018)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000237201.3

Allele description [Variation Report for NM_000527.5(LDLR):c.427T>C (p.Cys143Arg)]

NM_000527.5(LDLR):c.427T>C (p.Cys143Arg)

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.427T>C (p.Cys143Arg)
HGVS:
  • NC_000019.10:g.11105333T>C
  • NG_009060.1:g.20953T>C
  • NM_000527.4:c.427T>C
  • NM_000527.5:c.427T>CMANE SELECT
  • NM_001195798.2:c.427T>C
  • NM_001195799.2:c.304T>C
  • NM_001195800.2:c.314-2059T>C
  • NM_001195803.2:c.314-1232T>C
  • NP_000518.1:p.Cys143Arg
  • NP_000518.1:p.Cys143Arg
  • NP_001182727.1:p.Cys143Arg
  • NP_001182728.1:p.Cys102Arg
  • LRG_274t1:c.427T>C
  • LRG_274:g.20953T>C
  • LRG_274p1:p.Cys143Arg
  • NC_000019.9:g.11216009T>C
  • P01130:p.Cys143Arg
  • c.427T>C
Protein change:
C102R
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000058; UniProtKB: P01130#VAR_072828; dbSNP: rs875989901
NCBI 1000 Genomes Browser:
rs875989901
Molecular consequence:
  • NM_001195800.2:c.314-2059T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1232T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.4:c.427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.427T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.304T>C - 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

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000294704LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely pathogenic
(Mar 25, 2016)
germlineliterature only

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV000322898Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorgecriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germlineresearch

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

SCV000540715Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation

See additional submitters

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

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

SCV000894166Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Pathogenic
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot provided3not providedresearch, literature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Caucasianunknownyes11not provided3964not providedclinical testing

Citations

PubMed

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia.

Nauck MS, Köster W, Dörfer K, Eckes J, Scharnagl H, Gierens H, Nissen H, Nauck MA, Wieland H, März W.

Hum Mutat. 2001 Aug;18(2):165-6.

PubMed [citation]
PMID:
11462246

Update of the Portuguese Familial Hypercholesterolaemia Study.

Medeiros AM, Alves AC, Francisco V, Bourbon M; investigators of the Portuguese FH Study..

Atherosclerosis. 2010 Oct;212(2):553-8. doi: 10.1016/j.atherosclerosis.2010.07.012. Epub 2010 Aug 8.

PubMed [citation]
PMID:
20828696
See all PubMed Citations (5)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294704.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (3)
2not provided1not providednot providedliterature only PubMed (3)
3not provided1not providednot providedliterature only PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided
3germlineyes1not providednot provided1not providednot providednot provided

From Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge, SCV000322898.1

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

Description

0/190 non-FH alleles

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided
2germlineyesnot providednot providednot providednot providednot providednot providednot provided

From Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation, SCV000540715.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providednot providedclinical testing PubMed (2)

Description

Disrupt disulfide bridge between Cys128 and Cys143.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyes3964Whole bloodnot provided1not provided1not provided

From Fulgent Genetics,Fulgent Genetics, SCV000894166.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 14, 2021

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