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NM_000527.5(LDLR):c.2063dup (p.Asn688fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Mar 25, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000238456.1

Allele description [Variation Report for NM_000527.5(LDLR):c.2063dup (p.Asn688fs)]

NM_000527.5(LDLR):c.2063dup (p.Asn688fs)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.2063dup (p.Asn688fs)
HGVS:
  • NC_000019.10:g.11120445dup
  • NG_009060.1:g.36065dup
  • NM_000527.5:c.2063dupMANE SELECT
  • NM_001195798.2:c.2063dup
  • NM_001195799.2:c.1940dup
  • NM_001195800.2:c.1559dup
  • NM_001195803.2:c.1606+212dup
  • NP_000518.1:p.Asn688fs
  • NP_000518.1:p.Asn688fs
  • NP_001182727.1:p.Asn688fs
  • NP_001182728.1:p.Asn647fs
  • NP_001182729.1:p.Asn520fs
  • LRG_274t1:c.2063dup
  • LRG_274:g.36065dup
  • LRG_274p1:p.Asn688fs
  • NC_000019.9:g.11231121dup
  • NM_000527.4:c.2063dup
  • c.2063dupA
Protein change:
N520fs
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001596; dbSNP: rs879255128
NCBI 1000 Genomes Browser:
rs879255128
Molecular consequence:
  • NM_000527.5:c.2063dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.2063dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1940dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.1559dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1606+212dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV000295855LDLR-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,

SCV000607671Fundacion Hipercolesterolemia Familiar - SAFEHEART
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 1, 2016) 		germlineresearch

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P.

Clin Biochem. 2009 Jun;42(9):899-903. doi: 10.1016/j.clinbiochem.2009.01.017. Epub 2009 Feb 6.

PubMed [citation]
PMID:
19318025

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295855.2

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

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607671.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 5, 2023