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

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Aug 4, 2017)
Last evaluated:
Mar 25, 2016
Accession:
VCV000251102.1
Variation ID:
251102
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.265T>C (p.Cys89Arg)

Allele ID
245445
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11102738 (GRCh38) GRCh38 UCSC
19: 11213414 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11102738T>C
NC_000019.9:g.11213414T>C
NM_000527.5:c.265T>C MANE Select NP_000518.1:p.Cys89Arg missense
... more HGVS
Protein change
C89R
Other names
FH Catanzaro
Canonical SPDI
NC_000019.10:11102737:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10584817
LDLR-LOVD, British Heart Foundation: LDLR_000039
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 4 criteria provided, multiple submitters, no conflicts Mar 25, 2016 RCV000237985.5
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
LDLR Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
3091 3291

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 25, 2016)
criteria provided, single submitter
Method: literature only
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
LDLR-LOVD, British Heart Foundation
Accession: SCV000294565.2
Submitted: (Apr 20, 2016)
Evidence details
Publications
PubMed (5)
Likely pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge
Accession: SCV000322883.1
Submitted: (Oct 14, 2016)
Evidence details
Comment:
0/208 non-FH alleles
Likely pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Laboratory of Genetics and Molecular Cardiology, University of São Paulo
Study: HipercolBrasil
Accession: SCV000588492.1
Submitted: (Aug 04, 2017)
Evidence details
Pathogenic
(-)
no assertion criteria provided
Method: research
Familial hypercholesterolemia
Allele origin: germline
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum
Accession: SCV000606055.1
Submitted: (Apr 25, 2017)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations. Chmara M Journal of applied genetics 2010 PMID: 20145306
Familial hypercholesterolaemia in Portugal. Bourbon M Atherosclerosis 2008 PMID: 17765246
Analysis of sequence variations in the LDL receptor gene in Spain: general gene screening or search for specific alterations? Blesa S Clinical chemistry 2006 PMID: 16627557
Update of the molecular basis of familial hypercholesterolemia in The Netherlands. Fouchier SW Human mutation 2005 PMID: 16250003
Analysis of LDL receptor gene mutations in Italian patients with homozygous familial hypercholesterolemia. Bertolini S Arteriosclerosis, thrombosis, and vascular biology 1999 PMID: 9974426

Record last updated Aug 29, 2020