NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Dec 16, 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:: RCV000237320.3

Allele description [Variation Report for NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)]

NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)

Gene:

LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.5(LDLR):c.1019_1020delinsTG (p.Cys340Leu)

HGVS:

NC_000019.10:g.11110730_11110731delinsTG
NG_009060.1:g.26350_26351delinsTG
NM_000527.5:c.1019_1020delinsTGMANE SELECT
NM_001195798.2:c.1019_1020delinsTG
NM_001195799.2:c.896_897delinsTG
NM_001195800.2:c.515_516delinsTG
NM_001195803.2:c.638_639delinsTG
NP_000518.1:p.Cys340Leu
NP_001182727.1:p.Cys340Leu
NP_001182728.1:p.Cys299Leu
NP_001182729.1:p.Cys172Leu
NP_001182732.1:p.Cys213Leu
LRG_274:g.26350_26351delinsTG
NC_000019.9:g.11221406_11221407delinsTG
c.1019_1020delinsTG

Protein change:

C172L

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001324; dbSNP: rs879254758

NCBI 1000 Genomes Browser:

rs879254758

Molecular consequence:

NM_000527.5:c.1019_1020delinsTG - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.1019_1020delinsTG - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.896_897delinsTG - missense variant - [Sequence Ontology: SO:0001583]
NM_001195800.2:c.515_516delinsTG - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.638_639delinsTG - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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

Recent activity

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LOC4344175 [Oryza sativa Japonica Group]
LOC4344175 [Oryza sativa Japonica Group]
Gene ID:4344175

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000295142	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely pathogenic (Mar 25, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 20809525, 23535506 Citation Link,
SCV000503280	Centre 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)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000295142

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely pathogenic
(Mar 25, 2016)

germline

literature only

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

Citation Link,

SCV000503280

Centre 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)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	3	not provided	not provided	2602	not provided	clinical testing, literature only

Citations

PubMed

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network., Boileau C, Varret M, Rabès JP.

Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348.

PubMed [citation]

PMID:: 20809525
PMCID:: PMC3152176

The genetic spectrum of familial hypercholesterolemia in Pakistan.

Ahmed W, Whittall R, Riaz M, Ajmal M, Sadeque A, Ayub H, Qamar R, Humphries SE.

Clin Chim Acta. 2013 Jun 5;421:219-25. doi: 10.1016/j.cca.2013.03.017. Epub 2013 Mar 25.

PubMed [citation]

PMID:: 23535506
PMCID:: PMC3701840

See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295142.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (2)
2	not provided	1	not provided	not provided	literature only	PubMed (2)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	1	not provided	not provided		1	not provided	not provided	not 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, SCV000503280.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

Description

Index case (homozygote) = 1 , family members = 5 with co-segregation (2 homozygotes in the family)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	2600	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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