NM_000527.5(LDLR):c.265T>C (p.Cys89Arg) AND Familial hypercholesterolemia 1

Clinical significance:Likely pathogenic (Last evaluated: Mar 25, 2016)

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:
RCV000237985.5

Allele description [Variation Report for NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)]

NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)

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.265T>C (p.Cys89Arg)
Other names:
FH Catanzaro
HGVS:
  • NC_000019.10:g.11102738T>C
  • NG_009060.1:g.18358T>C
  • NM_000527.5:c.265T>CMANE SELECT
  • NM_001195798.2:c.265T>C
  • NM_001195799.2:c.190+2393T>C
  • NM_001195800.2:c.265T>C
  • NM_001195803.2:c.265T>C
  • NP_000518.1:p.Cys89Arg
  • NP_000518.1:p.Cys89Arg
  • NP_001182727.1:p.Cys89Arg
  • NP_001182729.1:p.Cys89Arg
  • NP_001182732.1:p.Cys89Arg
  • LRG_274t1:c.265T>C
  • LRG_274:g.18358T>C
  • LRG_274p1:p.Cys89Arg
  • NC_000019.9:g.11213414T>C
  • NM_000527.4:c.265T>C
  • c.265T>C
Protein change:
C89R
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000039;
Molecular consequence:
  • NM_001195799.2:c.190+2393T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.265T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.265T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.265T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.265T>C - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000294565LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely pathogenic
(Mar 25, 2016)
germlineliterature only

PubMed (5)
[See all records that cite these PMIDs]

Citation Link,

SCV000322883Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorgecriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germlineresearch

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

SCV000588492Laboratory 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]

SCV000606055Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrumno assertion criteria providedPathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes5not providednot provided5not providedresearch, literature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Familial hypercholesterolaemia in Portugal.

Bourbon M, Alves AC, Medeiros AM, Silva S, Soutar AK; Investigators of Portuguese FH Study..

Atherosclerosis. 2008 Feb;196(2):633-42. Epub 2007 Aug 31.

PubMed [citation]
PMID:
17765246

Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Kastelein JJ, Defesche JC.

Hum Mutat. 2005 Dec;26(6):550-6.

PubMed [citation]
PMID:
16250003
See all PubMed Citations (6)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294565.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (5)
2not provided1not providednot providedliterature only PubMed (5)
3not provided1not providednot providedliterature only PubMed (5)
4not provided1not providednot providedliterature only PubMed (5)
5not provided1not providednot providedliterature only PubMed (5)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided
3germlineyes1not providednot provided1not providednot providednot provided
4germlineyes1not providednot provided1not providednot providednot provided
5germlineyes1not providednot provided1not providednot providednot provided

From Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge, SCV000322883.1

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

Description

"Compound Heterozygous (with p.(Gly592Glu)) patient fibroblast, 125I-LDL assays"

Description

0/208 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 Laboratory of Genetics and Molecular Cardiology, University of São Paulo - HipercolBrasil, SCV000588492.1

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

Description

"Assay description:Comp htz (with p.(Gly592Glu)) patient fibroblast, 125I-LDL assays"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum, SCV000606055.1

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

Last Updated: Dec 4, 2021

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