U.S. flag

An official website of the United States government

NM_000527.5(LDLR):c.190+5G>A AND Cardiovascular phenotype

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 31, 2024
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:
RCV002413363.3

Allele description [Variation Report for NM_000527.5(LDLR):c.190+5G>A]

NM_000527.5(LDLR):c.190+5G>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.190+5G>A
HGVS:
  • NC_000019.10:g.11100350G>A
  • NG_009060.1:g.15970G>A
  • NM_000527.5:c.190+5G>AMANE SELECT
  • NM_001195798.2:c.190+5G>A
  • NM_001195799.2:c.190+5G>A
  • NM_001195800.2:c.190+5G>A
  • NM_001195803.2:c.190+5G>A
  • LRG_274t1:c.190+5G>A
  • LRG_274:g.15970G>A
  • NC_000019.9:g.11211026G>A
  • NM_000527.4:c.190+5G>A
Links:
dbSNP: rs1131692190
NCBI 1000 Genomes Browser:
rs1131692190
Molecular consequence:
  • NM_000527.5:c.190+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195798.2:c.190+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195799.2:c.190+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195800.2:c.190+5G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.190+5G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Cardiovascular phenotype
Identifiers:
MedGen: CN230736

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002722628Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Likely pathogenic
(Jan 31, 2024) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV002722628.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.190+5G>A intronic variant results from a G to A substitution 5 nucleotides after coding exon 2 in the LDLR gene. This alteration has been reported in individuals with familial hypercholesterolemia (FH) (Ambry internal data). Another alteration impacting the same donor site (c.190+4A>T) has been described in numerous familial hypercholesterolemia cohorts (Leren TP et al. Semin Vasc Med. 2004;4(1):75-85; Punzalan FE et al. J Atheroscler Thromb. 2005;12(5):276-83; Khateeb A et al. BMC Med Genet. 2011;12:40; Hooper AJ et al. Atherosclerosis. 2012;224(2):430-4; Vandrovcova J et al. Genet Med. 2013;15(12):948-57). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice donor site. Based on the majority of available evidence to date, this variant is likely to be pathogenic.

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

Last Updated: Jun 23, 2024