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NM_000527.5(LDLR):c.932_933del (p.Lys311fs) AND Hypercholesterolemia, familial, 1

Germline classification:
Pathogenic (4 submissions)
Last evaluated:
May 28, 2019
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:
RCV000237298.4

Allele description [Variation Report for NM_000527.5(LDLR):c.932_933del (p.Lys311fs)]

NM_000527.5(LDLR):c.932_933del (p.Lys311fs)

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.932_933del (p.Lys311fs)
HGVS:
  • NC_000019.10:g.11107506_11107507del
  • NG_009060.1:g.23126_23127del
  • NM_000527.5:c.932_933delMANE SELECT
  • NM_001195798.2:c.932_933del
  • NM_001195799.2:c.809_810del
  • NM_001195800.2:c.428_429del
  • NM_001195803.2:c.551_552del
  • NP_000518.1:p.Lys311fs
  • NP_001182727.1:p.Lys311fs
  • NP_001182728.1:p.Lys270fs
  • NP_001182729.1:p.Lys143fs
  • NP_001182732.1:p.Lys184fs
  • LRG_274:g.23126_23127del
  • NC_000019.9:g.11218181_11218182delAA
  • NC_000019.9:g.11218182_11218183del
  • NM_000527.4:c.932_933delAA
  • c.932_933del
  • p.Lys311Argfs*20
Protein change:
K143fs
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001869; dbSNP: rs879254723
NCBI 1000 Genomes Browser:
rs879254723
Molecular consequence:
  • NM_000527.5:c.932_933del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195798.2:c.932_933del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195799.2:c.809_810del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195800.2:c.428_429del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001195803.2:c.551_552del - frameshift variant - [Sequence Ontology: SO:0001589]
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
SCV000295062LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)		Pathogenic
(Mar 25, 2016) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link,

SCV000503257Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 16, 2016) 		germlineclinical testing

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

SCV000583763U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Mar 30, 2017) 		germlineclinical testing

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

SCV001140983Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Pathogenic
(May 28, 2019) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes91not provided2602not providedclinical testing, literature only
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

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

Mutation screening of the LDLR gene and ApoB gene in patients with a phenotype of familial hypercholesterolemia and normal values in a functional LDL receptor/apolipoprotein B assay.

Nissen H, Lestavel S, Hansen TS, Luc G, Bruckert E, Clavey V.

Clin Genet. 1998 Jul;54(1):79-82.

PubMed [citation]
PMID:
9727746
See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295062.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (2)
2not provided1not providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided
2germlineyes1not providednot provided1not providednot providednot provided

From Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix, SCV000503257.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided4not providednot providedclinical testing PubMed (1)

Description

subjects mutated among 2600 FH index cases screened = 4 , family members = 2 with co-segregation / p.Lys311Arg, p.Cys313Trp systematicaly associated (Van Leuven et al. Atherosclerosis 2001) / Software predictions: Conflicting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes2600not providednot provided4not providednot providednot provided

From U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille, SCV000583763.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided3not providednot providedclinical testing PubMed (1)

Description

Dutch Lipid Clinic Scoring : Definite FH

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided3not provided1not provided

From Mendelics, SCV001140983.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024