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NM_000527.5(LDLR):c.1434del (p.Leu479fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (3 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:
RCV000237829.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1434del (p.Leu479fs)]

NM_000527.5(LDLR):c.1434del (p.Leu479fs)

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.1434del (p.Leu479fs)
HGVS:
  • NC_000019.10:g.11113610del
  • NG_009060.1:g.29230del
  • NM_000527.5:c.1434delMANE SELECT
  • NM_001195798.2:c.1434del
  • NM_001195799.2:c.1311del
  • NM_001195800.2:c.930del
  • NM_001195803.2:c.1053del
  • NP_000518.1:p.Leu479fs
  • NP_000518.1:p.Leu479fs
  • NP_001182727.1:p.Leu479fs
  • NP_001182728.1:p.Leu438fs
  • NP_001182729.1:p.Leu311fs
  • NP_001182732.1:p.Leu352fs
  • LRG_274t1:c.1434del
  • LRG_274:g.29230del
  • LRG_274p1:p.Leu479fs
  • NC_000019.9:g.11224286del
  • NC_000019.9:g.11224286delG
  • NM_000527.4:c.1434del
  • c.1434delG
Protein change:
L311fs
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000846; dbSNP: rs879254899
NCBI 1000 Genomes Browser:
rs879254899
Molecular consequence:
  • NM_000527.5:c.1434del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.1434del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1311del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.930del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1053del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000295427LDLR-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,

SCV000606425Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum
no assertion criteria provided
Pathogenicgermlineresearch

SCV000607598Fundacion 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

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, Saenz P, Fuentes F, Almagro F, Mata P, Pocoví M.

Hum Mutat. 2004 Aug;24(2):187.

PubMed [citation]
PMID:
15241806

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, SCV000295427.2

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

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606425.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607598.1

#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