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NM_000527.5(LDLR):c.705dup (p.Cys236fs) 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:
RCV000237205.1

Allele description [Variation Report for NM_000527.5(LDLR):c.705dup (p.Cys236fs)]

NM_000527.5(LDLR):c.705dup (p.Cys236fs)

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.705dup (p.Cys236fs)
HGVS:
  • NC_000019.10:g.11106575dup
  • NG_009060.1:g.22195dup
  • NM_000527.4:c.705dupC
  • NM_000527.5:c.705dupMANE SELECT
  • NM_001195798.2:c.705dup
  • NM_001195799.2:c.582dup
  • NM_001195800.2:c.314-817dup
  • NM_001195803.2:c.324dup
  • NP_000518.1:p.Cys236fs
  • NP_001182727.1:p.Cys236fs
  • NP_001182728.1:p.Cys195fs
  • NP_001182732.1:p.Cys109fs
  • LRG_274t1:c.705dup
  • LRG_274:g.22195dup
  • NC_000019.9:g.11217251dup
  • c.705dupC
Protein change:
C109fs
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001250; dbSNP: rs879254653
NCBI 1000 Genomes Browser:
rs879254653
Molecular consequence:
  • NM_000527.5:c.705dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.705dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.582dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.324dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.314-817dup - 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
SCV000294934LDLR-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 defects causing familial hypercholesterolaemia: identification of deletions and duplications in the LDL-receptor gene and summary of all mutations found in patients attending the Hammersmith Hospital Lipid Clinic.

Tosi I, Toledo-Leiva P, Neuwirth C, Naoumova RP, Soutar AK.

Atherosclerosis. 2007 Sep;194(1):102-11. Epub 2006 Nov 13.

PubMed [citation]
PMID:
17094996

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294934.2

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

Last Updated: Aug 11, 2024