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NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jan 23, 2013
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000211587.4

Allele description [Variation Report for NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer)]

NM_000527.5(LDLR):c.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer)

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.908_926dup (p.Pro309_Ile310insGlyLeuValArgTer)
HGVS:
  • NC_000019.10:g.11107482_11107500dup
  • NG_009060.1:g.23102_23120dup
  • NM_000527.5:c.908_926dupMANE SELECT
  • NM_001195798.2:c.908_926dup
  • NM_001195799.2:c.785_803dup
  • NM_001195800.2:c.404_422dup
  • NM_001195803.2:c.527_545dup
  • NP_000518.1:p.Ile310_Lys311insGlyLeuValArgTer
  • NP_000518.1:p.Pro309_Ile310insGlyLeuValArgTer
  • NP_001182727.1:p.Pro309_Ile310insGlyLeuValArgTer
  • NP_001182728.1:p.Pro268_Ile269insGlyLeuValArgTer
  • NP_001182729.1:p.Pro141_Ile142insGlyLeuValArgTer
  • NP_001182732.1:p.Pro182_Ile183insGlyLeuValArgTer
  • LRG_274t1:c.908_926dup
  • LRG_274:g.23102_23120dup
  • LRG_274p1:p.Ile310_Lys311insGlyLeuValArgTer
  • NC_000019.9:g.11218155_11218156insCCGGGACTGGTCAGATGAA
  • NC_000019.9:g.11218158_11218176dup
  • NM_000527.4:c.908_926dup
Links:
dbSNP: rs875989908
NCBI 1000 Genomes Browser:
rs875989908
Molecular consequence:
  • NM_000527.5:c.908_926dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001195798.2:c.908_926dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001195799.2:c.785_803dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001195800.2:c.404_422dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001195803.2:c.527_545dup - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_000527.5:c.908_926dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195798.2:c.908_926dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195799.2:c.785_803dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195800.2:c.404_422dup - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001195803.2:c.527_545dup - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

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
SCV000268587Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital
no assertion criteria provided
Pathogenic
(Jan 23, 2013) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital, SCV000268587.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences

Last Updated: Sep 29, 2024