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c.(1586+1_1587-1)_(*2514_?)del 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:
RCV000237629.1

Allele description [Variation Report for c.(1586+1_1587-1)_(*2514_?)del]

c.(1586+1_1587-1)_(*2514_?)del

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
19p13.2
Genomic location:
Chr19: 11224439 - 11244506 (on Assembly GRCh37)
Preferred name:
c.(1586+1_1587-1)_(*2514_?)del
HGVS:
  • NC_000019.9:g.(11224439_11226769)_(11244506_?)del
  • c.(1586+1_1587-1)_(*2514_?)del
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001168

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
SCV000295524LDLR-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

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only

Citations

PubMed

Identification of deletions and duplications in the low density lipoprotein receptor gene by MLPA.

Holla Ø, Teie C, Berge KE, Leren TP.

Clin Chim Acta. 2005 Jun;356(1-2):164-71. Epub 2005 Mar 16.

PubMed [citation]
PMID:
15936313

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295524.2

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

Last Updated: Jan 13, 2025