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NM_000527.5(LDLR):c.191-1G>A AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 18, 2019
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:
RCV002411080.2

Allele description [Variation Report for NM_000527.5(LDLR):c.191-1G>A]

NM_000527.5(LDLR):c.191-1G>A

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.191-1G>A
HGVS:
  • NC_000019.10:g.11102663G>A
  • NG_009060.1:g.18283G>A
  • NG_140409.1:g.558G>A
  • NM_000527.5:c.191-1G>AMANE SELECT
  • NM_001195798.2:c.191-1G>A
  • NM_001195799.2:c.190+2318G>A
  • NM_001195800.2:c.191-1G>A
  • NM_001195803.2:c.191-1G>A
  • NM_001406861.1:c.449-1G>A
  • LRG_274t1:c.191-1G>A
  • LRG_274:g.18283G>A
  • NC_000019.9:g.11213339G>A
  • NM_000527.4:c.191-1G>A
  • c.191-1G>A
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000760; dbSNP: rs879254433
NCBI 1000 Genomes Browser:
rs879254433
Molecular consequence:
  • NM_001195799.2:c.190+2318G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.191-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001195798.2:c.191-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001195800.2:c.191-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001195803.2:c.191-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001406861.1:c.449-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002717952Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Apr 18, 2019) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Intronic mutations outside of Alu-repeat-rich domains of the LDL receptor gene are a cause of familial hypercholesterolemia.

Amsellem S, Briffaut D, Carrié A, Rabès JP, Girardet JP, Fredenrich A, Moulin P, Krempf M, Reznik Y, Vialettes B, de Gennes JL, Brukert E, Benlian P.

Hum Genet. 2002 Dec;111(6):501-10. Epub 2002 Sep 13.

PubMed [citation]
PMID:
12436241

A modified conformation sensitive gel electrophoresis (CSGE) method for rapid and accurate detection of low density lipoprotein (LDL) receptor gene mutations in Familial Hypercholesterolemia.

Fard-Esfahani P, Khatami S, Zeinali C, Taghikhani M, Allahyari M.

Clin Biochem. 2005 Jun;38(6):579-83.

PubMed [citation]
PMID:
15885240

Details of each submission

From Ambry Genetics, SCV002717952.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The c.191-1G>A intronic pathogenic mutation results from a G to A substitution one nucleotide upstream from coding exon 3 of the LDLR gene. This alteration has been reported in subjects with familial hypercholesterolemia (FH) (Amsellem S et al. Hum. Genet., 2002 Dec;111:501-10; Fard-Esfahani P et al. Clin. Biochem., 2005 Jun;38:579-83). In addition to the clinical data presented in the literature, alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. As such, this alteration is classified as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024