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NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Jun 11, 2021)
Last evaluated:
Aug 6, 2020
Accession:
VCV000251332.2
Variation ID:
251332
Description:
single nucleotide variant
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NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)

Allele ID
245669
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.2
Genomic location
19: 11105532 (GRCh38) GRCh38 UCSC
19: 11216208 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.11105532G>A
NC_000019.9:g.11216208G>A
NM_000527.5:c.626G>A MANE Select NP_000518.1:p.Cys209Tyr missense
... more HGVS
Protein change
C209Y, C168Y
Other names
-
Canonical SPDI
NC_000019.10:11105531:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10585022
LDLR-LOVD, British Heart Foundation: LDLR_000920
dbSNP: rs879254600
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 5 criteria provided, multiple submitters, no conflicts Mar 30, 2017 RCV000237316.3
Likely pathogenic 1 criteria provided, single submitter Aug 6, 2020 RCV001523918.1

Clinical features observed in individuals with this variant

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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
3087 3287

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: SCV000294831.2
Submitted: (Apr 20, 2016)
Evidence details
Likely pathogenic
(Aug 06, 2020)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Color Health, Inc
Accession: SCV001733655.1
Submitted: (Jun 11, 2021)
Evidence details
Comment:
This missense variant (also known as p.Cys188Tyr in the mature protein) replaces cysteine with tyrosine at codon 209 in the LDLR type A repeat 5 … (more)
Likely pathogenic
(Nov 05, 2016)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 1
(Autosomal dominant inheritance)
Allele origin: inherited
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation
Additional submitter:
Centre of Molecular Biology and Gene Therapy,University Hospital Brno
Accession: SCV000540746.1
Submitted: (Mar 30, 2017)
Evidence details
Comment:
Disrupt disulfide bridge between Cys197 and Cys209.
Pathogenic
(Mar 30, 2017)
criteria provided, single submitter
Method: clinical testing
Familial Hypercholesterolemia
Allele origin: germline
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille
Accession: SCV000583712.1
Submitted: (Mar 31, 2017)
Comment:
ACMG Guidelines: Pathogenic (ii)
Evidence details
Likely pathogenic
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
(Autosomal dominant inheritance)
Allele origin: germline
Fundacion Hipercolesterolemia Familiar
Study: SAFEHEART
Accession: SCV000607477.1
Submitted: (Apr 20, 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: SCV000606173.1
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
The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations. Tichý L Atherosclerosis 2012 PMID: 22698793
Spectrum of low density lipoprotein receptor mutations in Czech hypercholesterolemic patients. Kuhrová V Human mutation 2002 PMID: 11754108
[Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg]. Tatishcheva IuA Genetika 2001 PMID: 11642133

Text-mined citations for rs879254600...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jun 19, 2021