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NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter) AND Cardiovascular phenotype

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 24, 2022
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:
RCV002411099.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)]

NM_000527.5(LDLR):c.1860G>A (p.Trp620Ter)

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.1860G>A (p.Trp620Ter)
Other names:
p.Trp620*
HGVS:
  • NC_000019.10:g.11120106G>A
  • NG_009060.1:g.35726G>A
  • NM_000527.5:c.1860G>AMANE SELECT
  • NM_001195798.2:c.1860G>A
  • NM_001195799.2:c.1737G>A
  • NM_001195800.2:c.1356G>A
  • NM_001195803.2:c.1479G>A
  • NP_000518.1:p.Trp620Ter
  • NP_000518.1:p.Trp620Ter
  • NP_001182727.1:p.Trp620Ter
  • NP_001182728.1:p.Trp579Ter
  • NP_001182729.1:p.Trp452Ter
  • NP_001182732.1:p.Trp493Ter
  • LRG_274t1:c.1860G>A
  • LRG_274:g.35726G>A
  • LRG_274p1:p.Trp620Ter
  • NC_000019.9:g.11230782G>A
  • NM_000527.4:c.1860G>A
  • c.1860G>A
Protein change:
W452*
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001536; dbSNP: rs875989933
NCBI 1000 Genomes Browser:
rs875989933
Molecular consequence:
  • NM_000527.5:c.1860G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195798.2:c.1860G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195799.2:c.1737G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195800.2:c.1356G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195803.2:c.1479G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV002724100Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Jan 24, 2022) 		germlineclinical testing

PubMed (4)
[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

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network., Boileau C, Varret M, Rabès JP.

Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348.

PubMed [citation]
PMID:
20809525
PMCID:
PMC3152176

Novel mutations of low-density lipoprotein receptor gene in China patients with familial hypercholesterolemia.

Fan LL, Lin MJ, Chen YQ, Huang H, Peng DQ, Xia K, Zhao SP, Xiang R.

Appl Biochem Biotechnol. 2015 May;176(1):101-9. doi: 10.1007/s12010-015-1554-x. Epub 2015 Apr 7.

PubMed [citation]
PMID:
25846081
See all PubMed Citations (4)

Details of each submission

From Ambry Genetics, SCV002724100.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

The p.W620* pathogenic mutation (also known as c.1860G>A), located in coding exon 13 of the LDLR gene, results from a G to A substitution at nucleotide position 1860. This changes the amino acid from a tryptophan to a stop codon within coding exon 13. This variant has been reported in individuals with familial hypercholesterolemia (FH), segregating with disease in two families (Marduel M et al. Hum Mutat, 2010 Nov;31:E1811-24; Fan LL et al. Appl Biochem Biotechnol, 2015 May;176:101-9; Xiang R et al. Atherosclerosis, 2017 03;258:84-88; Sturm AC et al. JAMA Cardiol, 2021 08;6:902-909). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). In addition, 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: Sep 29, 2024