NM_000527.5(LDLR):c.67+2015G>T AND Hypercholesterolemia, familial, 1

Germline classification:
Benign (2 submissions)
Last evaluated:
Mar 25, 2016
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000238585.2

Allele description [Variation Report for NM_000527.5(LDLR):c.67+2015G>T]

NM_000527.5(LDLR):c.67+2015G>T

Genes:
LOC126862855:BRD4-independent group 4 enhancer GRCh37_chr19:11202176-11203375 [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.67+2015G>T
HGVS:
  • NC_000019.10:g.11091630G>T
  • NG_009060.1:g.7250G>T
  • NM_000527.5:c.67+2015G>TMANE SELECT
  • NM_001195798.2:c.67+2015G>T
  • NM_001195799.2:c.67+2015G>T
  • NM_001195800.2:c.67+2015G>T
  • NM_001195803.2:c.67+2015G>T
  • LRG_274t1:c.67+2015G>T
  • LRG_274:g.7250G>T
  • NC_000019.9:g.11202306G>T
  • NM_000527.4:c.67+2015G>T
  • c.67+2015G>T
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001800; dbSNP: rs6511720
NCBI 1000 Genomes Browser:
rs6511720
Molecular consequence:
  • NM_000527.5:c.67+2015G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195798.2:c.67+2015G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195799.2:c.67+2015G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195800.2:c.67+2015G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.67+2015G>T - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000294430LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)		Benign
(Mar 25, 2016) 		germlineliterature only

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

Citation Link,

SCV000606000Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum
no assertion criteria provided
Benigngermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineno1not providednot provided1not providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Association analysis of 33 lipoprotein candidate genes in multi-generational families of African ancestry.

Miljkovic I, Yerges-Armstrong LM, Kuller LH, Kuipers AL, Wang X, Kammerer CM, Nestlerode CS, Bunker CH, Patrick AL, Wheeler VW, Evans RW, Zmuda JM.

J Lipid Res. 2010 Jul;51(7):1823-31. doi: 10.1194/jlr.M003897. Epub 2010 Mar 22.

PubMed [citation]
PMID:
20308432
PMCID:
PMC2882746

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294430.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineno1not providednot provided1not providednot providednot provided

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606000.1

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

Last Updated: Feb 20, 2024