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NM_000527.5(LDLR):c.1363C>T (p.Gln455Ter) AND Hypercholesterolemia, familial, 1

Germline classification:
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:
RCV000238381.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1363C>T (p.Gln455Ter)]

NM_000527.5(LDLR):c.1363C>T (p.Gln455Ter)

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.1363C>T (p.Gln455Ter)
HGVS:
  • NC_000019.10:g.11113539C>T
  • NG_009060.1:g.29159C>T
  • NM_000527.5:c.1363C>TMANE SELECT
  • NM_001195798.2:c.1363C>T
  • NM_001195799.2:c.1240C>T
  • NM_001195800.2:c.859C>T
  • NM_001195803.2:c.982C>T
  • NP_000518.1:p.Gln455Ter
  • NP_001182727.1:p.Gln455Ter
  • NP_001182728.1:p.Gln414Ter
  • NP_001182729.1:p.Gln287Ter
  • NP_001182732.1:p.Gln328Ter
  • LRG_274:g.29159C>T
  • NC_000019.9:g.11224215C>T
  • c.1363C>T
Protein change:
Q287*
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000856; dbSNP: rs879254880
NCBI 1000 Genomes Browser:
rs879254880
Molecular consequence:
  • NM_000527.5:c.1363C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195798.2:c.1363C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195799.2:c.1240C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195800.2:c.859C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195803.2:c.982C>T - nonsense - [Sequence Ontology: SO:0001587]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000295395LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)		Pathogenic
(Mar 25, 2016) 		germlineliterature only

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only

Citations

PubMed

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Humphries SE, Whittall RA, Hubbart CS, Maplebeck S, Cooper JA, Soutar AK, Naoumova R, Thompson GR, Seed M, Durrington PN, Miller JP, Betteridge DJ, Neil HA; Simon Broome Familial Hyperlipidaemia Register Group and Scientific Steering Committee..

J Med Genet. 2006 Dec;43(12):943-9. Erratum in: J Med Genet. 2009 Dec;46(12):861. J Med Genet. 2010 Dec;47(12):862.

PubMed [citation]
PMID:
17142622
PMCID:
PMC2563208

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295395.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Aug 5, 2023