NM_000527.4(LDLR):c.-136C>G AND Familial hypercholesterolemia 1

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Mar 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000237183.1

Allele description [Variation Report for NM_000527.4(LDLR):c.-136C>G]

NM_000527.4(LDLR):c.-136C>G

Genes:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
LDLR-AS1:LDLR antisense RNA 1 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.4(LDLR):c.-136C>G
HGVS:
  • NC_000019.10:g.11089413C>G
  • NG_009060.1:g.5033C>G
  • NM_000527.4:c.-136C>G
  • LRG_274t1:c.-136C>G
  • LRG_274:g.5033C>G
  • NC_000019.9:g.11200089C>G
  • NR_163945.1:n.247G>C
  • c.-136C>G
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001260; dbSNP: rs879254374
NCBI 1000 Genomes Browser:
rs879254374
Molecular consequence:
  • NM_000527.4:c.-136C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NR_163945.1:n.247G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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
SCV000294391LDLR-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,

SCV000607393Fundacion Hipercolesterolemia Familiar - SAFEHEARTcriteria provided, single submitter
Uncertain significance
(Mar 1, 2016)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

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

Functional analysis of LDLR promoter and 5' UTR mutations in subjects with clinical diagnosis of familial hypercholesterolemia.

De Castro-Orós I, Pampín S, Bolado-Carrancio A, De Cubas A, Palacios L, Plana N, Puzo J, Martorell E, Stef M, Masana L, Civeira F, Rodríguez-Rey JC, Pocoví M.

Hum Mutat. 2011 Aug;32(8):868-72. doi: 10.1002/humu.21520. Epub 2011 Jul 12.

PubMed [citation]
PMID:
21538688

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294391.2

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

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607393.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (2)
2not providednot providednot providednot providedresearch PubMed (2)

Description

"Heterologous cells (HepG2), luciferase assays"
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided
2germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 14, 2020

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