NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) AND Familial hypercholesterolemia 1

Clinical significance:Pathogenic/Likely pathogenic (Last evaluated: Mar 30, 2017)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
5 submissions [Details]
Record status:
current
Accession:
RCV000237316.3

Allele description [Variation Report for NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr)]

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

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.626G>A (p.Cys209Tyr)
HGVS:
  • NC_000019.10:g.11105532G>A
  • NG_009060.1:g.21152G>A
  • NM_000527.4:c.626G>A
  • NM_000527.5:c.626G>AMANE SELECT
  • NM_001195798.2:c.626G>A
  • NM_001195799.2:c.503G>A
  • NM_001195800.2:c.314-1860G>A
  • NM_001195803.2:c.314-1033G>A
  • NP_000518.1:p.Cys209Tyr
  • NP_000518.1:p.Cys209Tyr
  • NP_001182727.1:p.Cys209Tyr
  • NP_001182728.1:p.Cys168Tyr
  • LRG_274t1:c.626G>A
  • LRG_274:g.21152G>A
  • LRG_274p1:p.Cys209Tyr
  • NC_000019.9:g.11216208G>A
  • c.626G>A
Protein change:
C168Y
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000920; dbSNP: rs879254600
NCBI 1000 Genomes Browser:
rs879254600
Molecular consequence:
  • NM_001195800.2:c.314-1860G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1033G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.4:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.626G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.503G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
39

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
SCV000294831LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely pathogenic
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000540746Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation

See additional submitters

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

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

SCV000583712U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lillecriteria provided, single submitter
Pathogenic
(Mar 30, 2017)
germlineclinical testing

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

SCV000606173Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrumno assertion criteria providedPathogenicgermlineresearch

SCV000607477Fundacion Hipercolesterolemia Familiar - SAFEHEARTcriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germlineresearch

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

Description

ACMG Guidelines: Pathogenic (ii)

SCV000583712

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes42not provided2not providedclinical testing, literature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch
Caucasianinheritedyes5337not provided3964yesclinical testing

Citations

PubMed

[Four new mutations and polymorphic variants of the low density lipoprotein receptor in patients with familial hypercholesterolemia in Saint Petersburg].

Tatishcheva IuA, Mandel'shtam MIu, Golubkov VI, Lipovetskiĭ BM, Gaĭtskhoki VS.

Genetika. 2001 Sep;37(9):1290-5. Russian.

PubMed [citation]
PMID:
11642133

The molecular basis of familial hypercholesterolemia in the Czech Republic: spectrum of LDLR mutations and genotype-phenotype correlations.

Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L.

Atherosclerosis. 2012 Aug;223(2):401-8. doi: 10.1016/j.atherosclerosis.2012.05.014. Epub 2012 May 23.

PubMed [citation]
PMID:
22698793
See all PubMed Citations (4)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294831.2

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

From Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation, SCV000540746.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian53not providedyesclinical testing PubMed (3)

Description

Disrupt disulfide bridge between Cys197 and Cys209.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1inheritedyes3964Whole bloodnot provided53not provided37not provided

From U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille, SCV000583712.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (1)

Description

Dutch Lipid Clinic Scoring : Probable FH

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not provided2not provided

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum, SCV000606173.1

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

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607477.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 18, 2021

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