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NM_000527.5(LDLR):c.100T>G (p.Cys34Gly) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic/Likely pathogenic (4 submissions)
Last evaluated:
Jan 2, 2018
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000237876.4

Allele description [Variation Report for NM_000527.5(LDLR):c.100T>G (p.Cys34Gly)]

NM_000527.5(LDLR):c.100T>G (p.Cys34Gly)

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.100T>G (p.Cys34Gly)
HGVS:
  • NC_000019.10:g.11100255T>G
  • NG_009060.1:g.15875T>G
  • NM_000527.5:c.100T>GMANE SELECT
  • NM_001195798.2:c.100T>G
  • NM_001195799.2:c.100T>G
  • NM_001195800.2:c.100T>G
  • NM_001195803.2:c.100T>G
  • NP_000518.1:p.Cys34Gly
  • NP_000518.1:p.Cys34Gly
  • NP_001182727.1:p.Cys34Gly
  • NP_001182728.1:p.Cys34Gly
  • NP_001182729.1:p.Cys34Gly
  • NP_001182732.1:p.Cys34Gly
  • LRG_274t1:c.100T>G
  • LRG_274:g.15875T>G
  • LRG_274p1:p.Cys34Gly
  • NC_000019.9:g.11210931T>G
  • NM_000527.4:c.100T>G
  • c.100T>G
Protein change:
C34G
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001214; dbSNP: rs879254405
NCBI 1000 Genomes Browser:
rs879254405
Molecular consequence:
  • NM_000527.5:c.100T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.100T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.100T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.100T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.100T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Name:
Hypercholesterolemia, familial, 1
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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000294465LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)		Likely pathogenic
(Mar 25, 2016) 		germlineliterature only

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

Citation Link,

SCV000540717Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Nov 5, 2016) 		unknownclinical testing

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

SCV000583631U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 30, 2017) 		germlineclinical testing

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

SCV000782904Robarts Research Institute, Western University
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 2, 2018) 		germlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes61not provided3not providedclinical testing, literature only
Caucasianunknownyes11not provided3964yesclinical testing

Citations

PubMed

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network., Boileau C, Varret M, Rabès JP.

Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348.

PubMed [citation]
PMID:
20809525
PMCID:
PMC3152176

An APEX-based genotyping microarray for the screening of 168 mutations associated with familial hypercholesterolemia.

Dušková L, Kopečková L, Jansová E, Tichý L, Freiberger T, Zapletalová P, Soška V, Ravčuková B, Fajkusová L.

Atherosclerosis. 2011 May;216(1):139-45. doi: 10.1016/j.atherosclerosis.2011.01.023. Epub 2011 Jan 21.

PubMed [citation]
PMID:
21310417
See all PubMed Citations (5)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294465.2

#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 Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, SCV000540717.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Caucasian1not providedyesclinical testing PubMed (2)

Description

Disrupt disulfide bridge between Cys34 and Cys52.

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

From U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille, SCV000583631.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

Dutch Lipid Clinic Scoring : Definite FH

Description

ACMG Guidelines: Pathogenic (ii)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not provided1not provided

From Robarts Research Institute, Western University, SCV000782904.1

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

Last Updated: May 7, 2024