NM_000527.5(LDLR):c.533A>G (p.Asp178Gly) 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:
3 submissions [Details]
Record status:
current
Accession:
RCV000237929.2

Allele description [Variation Report for NM_000527.5(LDLR):c.533A>G (p.Asp178Gly)]

NM_000527.5(LDLR):c.533A>G (p.Asp178Gly)

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.533A>G (p.Asp178Gly)
HGVS:
  • NC_000019.10:g.11105439A>G
  • NG_009060.1:g.21059A>G
  • NM_000527.4:c.533A>G
  • NM_000527.5:c.533A>GMANE SELECT
  • NM_001195798.2:c.533A>G
  • NM_001195799.2:c.410A>G
  • NM_001195800.2:c.314-1953A>G
  • NM_001195803.2:c.314-1126A>G
  • NP_000518.1:p.Asp178Gly
  • NP_000518.1:p.Asp178Gly
  • NP_001182727.1:p.Asp178Gly
  • NP_001182728.1:p.Asp137Gly
  • LRG_274t1:c.533A>G
  • LRG_274:g.21059A>G
  • NC_000019.9:g.11216115A>G
  • c.533A>G
Protein change:
D137G
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000825; dbSNP: rs875989902
NCBI 1000 Genomes Browser:
rs875989902
Molecular consequence:
  • NM_001195800.2:c.314-1953A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1126A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.4:c.533A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.533A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.533A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.410A>G - 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
SCV000294778LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely pathogenic
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000583697U4M - 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]

SCV000607472Fundacion 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)

SCV000583697

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes21not provided1not providedclinical testing, literature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, Saenz P, Fuentes F, Almagro F, Mata P, Pocoví M.

Hum Mutat. 2004 Aug;24(2):187.

PubMed [citation]
PMID:
15241806

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

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294778.2

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

From U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille, SCV000583697.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)

Description

Dutch Lipid Clinic Scoring : Probable FH

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

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607472.1

#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: Aug 29, 2020

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