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NM_000527.5(LDLR):c.68-5_68-2del AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (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:
RCV000237245.3

Allele description [Variation Report for NM_000527.5(LDLR):c.68-5_68-2del]

NM_000527.5(LDLR):c.68-5_68-2del

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.68-5_68-2del
HGVS:
  • NC_000019.10:g.11100218_11100221del
  • NG_009060.1:g.15838_15841del
  • NM_000527.5:c.68-5_68-2delMANE SELECT
  • NM_001195798.2:c.68-5_68-2del
  • NM_001195799.2:c.68-5_68-2del
  • NM_001195800.2:c.68-5_68-2del
  • NM_001195803.2:c.68-5_68-2del
  • LRG_274t1:c.68-5_68-2del
  • LRG_274:g.15838_15841del
  • NC_000019.9:g.11210894_11210897del
  • NM_000527.4:c.68-5_68-2del
  • c.68-5_68-2del
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000461; dbSNP: rs879254395
NCBI 1000 Genomes Browser:
rs879254395
Molecular consequence:
  • NM_000527.5:c.68-5_68-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001195798.2:c.68-5_68-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001195799.2:c.68-5_68-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001195800.2:c.68-5_68-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001195803.2:c.68-5_68-2del - splice acceptor variant - [Sequence Ontology: SO:0001574]

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
SCV000294433LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

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

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

Citation Link,

SCV000606002Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum
no assertion criteria provided
Pathogenicgermlineresearch

Help

Summary from all submissions

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

Citations

PubMed

Molecular genetic testing for familial hypercholesterolemia: spectrum of LDL receptor gene mutations in The Netherlands.

Lombardi MP, Redeker EJ, Defesche JC, Kamerling SW, Trip MD, Mannens MM, Havekes LM, Kastelein JJ.

Clin Genet. 2000 Feb;57(2):116-24.

PubMed [citation]
PMID:
10735632

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294433.2

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

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606002.1

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

Last Updated: Aug 5, 2023