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NM_000527.5(LDLR):c.1946dup (p.Glu650fs) 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:
RCV000238237.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1946dup (p.Glu650fs)]

NM_000527.5(LDLR):c.1946dup (p.Glu650fs)

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.1946dup (p.Glu650fs)
HGVS:
  • NC_000019.10:g.11120192dup
  • NG_009060.1:g.35812dup
  • NM_000527.5:c.1946dupMANE SELECT
  • NM_001195798.2:c.1946dup
  • NM_001195799.2:c.1823dup
  • NM_001195800.2:c.1442dup
  • NM_001195803.2:c.1565dup
  • NP_000518.1:p.Glu650fs
  • NP_001182727.1:p.Glu650fs
  • NP_001182728.1:p.Glu609fs
  • NP_001182729.1:p.Glu482fs
  • NP_001182732.1:p.Glu523fs
  • LRG_274:g.35812dup
  • NC_000019.9:g.11230868dup
  • c.1946dupC
Protein change:
E482fs
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001559; dbSNP: rs879255082
NCBI 1000 Genomes Browser:
rs879255082
Molecular consequence:
  • NM_000527.5:c.1946dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.1946dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.1823dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.1442dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.1565dup - 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
SCV000295766LDLR-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

Spectrum of LDL receptor gene mutations in heterozygous familial hypercholesterolemia.

Day IN, Whittall RA, O'Dell SD, Haddad L, Bolla MK, Gudnason V, Humphries SE.

Hum Mutat. 1997;10(2):116-27.

PubMed [citation]
PMID:
9259195

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295766.2

#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