NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe) 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:
2 submissions [Details]
Record status:
current
Accession:
RCV000495897.2

Allele description [Variation Report for NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe)]

NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.4(LDLR):c.1744C>T (p.Leu582Phe)
HGVS:
  • NC_000019.10:g.11116897C>T
  • NG_009060.1:g.32517C>T
  • NM_000527.4:c.1744C>T
  • NM_001195798.2:c.1744C>T
  • NM_001195799.2:c.1621C>T
  • NM_001195800.2:c.1240C>T
  • NM_001195803.2:c.1363C>T
  • NP_000518.1:p.Leu582Phe
  • NP_001182727.1:p.Leu582Phe
  • NP_001182728.1:p.Leu541Phe
  • NP_001182729.1:p.Leu414Phe
  • NP_001182732.1:p.Leu455Phe
  • LRG_274t1:c.1744C>T
  • LRG_274:g.32517C>T
  • LRG_274p1:p.Leu582Phe
  • NC_000019.9:g.11227573C>T
Protein change:
L414F
Links:
dbSNP: rs1131692216
NCBI 1000 Genomes Browser:
rs1131692216
Molecular consequence:
  • NM_000527.4:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1744C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1621C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1240C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1363C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000583878U4M - 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]

SCV000599391Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorgecriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germline, not applicablecuration, literature only

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

Description

ACMG Guidelines: Pathogenic (ii)

SCV000583878

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes31not providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration
not providednot applicablenot applicablenot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

The use of targeted exome sequencing in genetic diagnosis of young patients with severe hypercholesterolemia.

Jiang L, Wu WF, Sun LY, Chen PP, Wang W, Benito-Vicente A, Zhang F, Pan XD, Cui W, Yang SW, Zhou YJ, Martin C, Wang LY.

Sci Rep. 2016 Nov 10;6:36823. doi: 10.1038/srep36823.

PubMed [citation]
PMID:
27830735
PMCID:
PMC5103295

Details of each submission

From U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille, SCV000583878.1

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

Description

Dutch Lipid Clinic Scoring : Definite FH

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

From Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge, SCV000599391.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)
2not providednot providednot providednot providedliterature only PubMed (2)

Description

"Assay Description:Heterologous cells (CHO), FACS assays"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 25, 2020

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