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NM_000527.5(LDLR):c.1988-52_2006del AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (1 submission)
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:
RCV000237567.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1988-52_2006del]

NM_000527.5(LDLR):c.1988-52_2006del

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.1988-52_2006del
HGVS:
  • NC_000019.10:g.11120318_11120388del
  • NG_009060.1:g.35938_36008del
  • NM_000527.5:c.1988-52_2006delMANE SELECT
  • NM_001195798.2:c.1988-52_2006del
  • NM_001195799.2:c.1865-52_1883del
  • NM_001195800.2:c.1484-52_1502del
  • NM_001195803.2:c.1606+85_1606+155del
  • LRG_274:g.35938_36008del
  • NC_000019.9:g.11230994_11231064del
  • c.1988-52_2006del
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000270; dbSNP: rs1555807306
NCBI 1000 Genomes Browser:
rs1555807306
Molecular consequence:
  • NM_001195803.2:c.1606+85_1606+155del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.1988-52_2006del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001195798.2:c.1988-52_2006del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001195799.2:c.1865-52_1883del - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001195800.2:c.1484-52_1502del - 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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000295796LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

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

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only

Citations

PubMed

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

Chmara M, Wasag B, Zuk M, Kubalska J, Wegrzyn A, Bednarska-Makaruk M, Pronicka E, Wehr H, Defesche JC, Rynkiewicz A, Limon J.

J Appl Genet. 2010;51(1):95-106. doi: 10.1007/BF03195716.

PubMed [citation]
PMID:
20145306

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295796.2

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

Last Updated: Aug 5, 2023