NM_000527.5(LDLR):c.2548-2A>G AND Hypercholesterolemia, familial, 1

Germline classification:: Likely 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:: RCV000237388.1

Allele description [Variation Report for NM_000527.5(LDLR):c.2548-2A>G]

NM_000527.5(LDLR):c.2548-2A>G

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.2548-2A>G

HGVS:

NC_000019.10:g.11131279A>G
NG_009060.1:g.46899A>G
NM_000527.5:c.2548-2A>GMANE SELECT
NM_001195798.2:c.2548-8A>G
NM_001195799.2:c.2425-2A>G
NM_001195800.2:c.2044-2A>G
NM_001195803.2:c.2014-2A>G
LRG_274:g.46899A>G
NC_000019.9:g.11241955A>G
c.2548-2A>G

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000595; dbSNP: rs879255227

NCBI 1000 Genomes Browser:

rs879255227

Molecular consequence:

NM_001195798.2:c.2548-8A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_000527.5:c.2548-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001195799.2:c.2425-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001195800.2:c.2044-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001195803.2:c.2014-2A>G - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000296036	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely pathogenic (Mar 25, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000296036

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely pathogenic
(Mar 25, 2016)

germline

literature only

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	not provided	not provided	1	not provided	literature only

Citations

PubMed

Differences in the phenotype between children with familial defective apolipoprotein B-100 and familial hypercholesterolemia.

Pimstone SN, Defesche JC, Clee SM, Bakker HD, Hayden MR, Kastelein JJ.

Arterioscler Thromb Vasc Biol. 1997 May;17(5):826-33.

PubMed [citation]

PMID:: 9157944

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000296036.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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