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NM_000527.5(LDLR):c.1975_1987+16del 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:
RCV000237818.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1975_1987+16del]

NM_000527.5(LDLR):c.1975_1987+16del

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.1975_1987+16del
HGVS:
  • NC_000019.10:g.11120221_11120249del
  • NG_009060.1:g.35841_35869del
  • NM_000527.5:c.1975_1987+16delMANE SELECT
  • NM_001195798.2:c.1975_1987+16del
  • NM_001195799.2:c.1852_1864+16del
  • NM_001195800.2:c.1471_1483+16del
  • NM_001195803.2:c.1594_1606+16del
  • LRG_274:g.35841_35869del
  • NC_000019.9:g.11230897_11230925del
  • c.1975_1987+16del
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001570; dbSNP: rs879255093
NCBI 1000 Genomes Browser:
rs879255093
Molecular consequence:
  • NM_000527.5:c.1975_1987+16del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195798.2:c.1975_1987+16del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195799.2:c.1852_1864+16del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195800.2:c.1471_1483+16del - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001195803.2:c.1594_1606+16del - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000295785LDLR-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

The genetic spectrum of familial hypercholesterolemia in south-eastern Poland.

Sharifi M, Walus-Miarka M, Idzior-WaluĊ› B, Malecki MT, Sanak M, Whittall R, Li KW, Futema M, Humphries SE.

Metabolism. 2016 Mar;65(3):48-53. doi: 10.1016/j.metabol.2015.10.018. Epub 2015 Nov 10.

PubMed [citation]
PMID:
26892515
PMCID:
PMC4766367

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295785.2

#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