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NM_000527.5(LDLR):c.1878del (p.Ala627fs) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 14, 2017
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:
RCV002411271.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1878del (p.Ala627fs)]

NM_000527.5(LDLR):c.1878del (p.Ala627fs)

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.1878del (p.Ala627fs)
HGVS:
  • NC_000019.10:g.11120124del
  • NG_009060.1:g.35744del
  • NM_000527.5:c.1878delMANE SELECT
  • NM_001195798.2:c.1878del
  • NM_001195799.2:c.1755del
  • NM_001195800.2:c.1374del
  • NM_001195803.2:c.1497del
  • NP_000518.1:p.Ala627fs
  • NP_000518.1:p.E626Efs*38
  • NP_001182727.1:p.Ala627fs
  • NP_001182728.1:p.Ala586fs
  • NP_001182729.1:p.Ala459fs
  • NP_001182732.1:p.Ala500fs
  • LRG_274:g.35744del
  • NC_000019.9:g.11230799del
  • NC_000019.9:g.11230800del
  • NM_000527.4:c.1878delA
Protein change:
A459fs
Links:
dbSNP: rs1057516134
NCBI 1000 Genomes Browser:
rs1057516134
Molecular consequence:
  • NM_000527.5:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.1878del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1755del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.1374del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1497del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002722382Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 14, 2017) 		germlineclinical testing

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

Citation Link

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Summary from all submissions

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

Citations

PubMed

Longitudinal evaluation and assessment of cardiovascular disease in patients with homozygous familial hypercholesterolemia.

Kolansky DM, Cuchel M, Clark BJ, Paridon S, McCrindle BW, Wiegers SE, Araujo L, Vohra Y, Defesche JC, Wilson JM, Rader DJ.

Am J Cardiol. 2008 Dec 1;102(11):1438-43. doi: 10.1016/j.amjcard.2008.07.035. Epub 2008 Sep 11.

PubMed [citation]
PMID:
19026292

Details of each submission

From Ambry Genetics, SCV002722382.2

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

Description

The c.1878delA pathogenic mutation, located in coding exon 13 of the LDLR gene, results from a deletion of one nucleotide at nucleotide position 1878, causing a translational frameshift with a predicted alternate stop codon (p.A627Pfs*38). This alteration (reported as 1877delA) was detected in a patient reported to have homozygous familial hypercholesterolemia (Kolansky DM et al. Am J Cardiol. 2008;102:1438-43). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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

Last Updated: Feb 25, 2025