NM_000527.5(LDLR):c.1829_1831del (p.Ser610del) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic/Likely pathogenic (3 submissions)
Last evaluated:: Mar 30, 2017
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:: RCV000237803.5

Allele description [Variation Report for NM_000527.5(LDLR):c.1829_1831del (p.Ser610del)]

NM_000527.5(LDLR):c.1829_1831del (p.Ser610del)

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.1829_1831del (p.Ser610del)

HGVS:

NC_000019.10:g.11116982_11116984del
NG_009060.1:g.32602_32604del
NM_000527.5:c.1829_1831delMANE SELECT
NM_001195798.2:c.1829_1831del
NM_001195799.2:c.1706_1708del
NM_001195800.2:c.1325_1327del
NM_001195803.2:c.1448_1450del
NP_000518.1:p.Ser610del
NP_000518.1:p.Ser610del
NP_001182727.1:p.Ser610del
NP_001182728.1:p.Ser569del
NP_001182729.1:p.Ser442del
NP_001182732.1:p.Ser483del
LRG_274t1:c.1829_1831del
LRG_274:g.32602_32604del
LRG_274p1:p.Ser610del
NC_000019.9:g.11227656_11227658del
NC_000019.9:g.11227658_11227660del
NM_000527.4:c.1829_1831del
NM_000527.5:c.1829_1831delCCTMANE SELECT
c.1829_1831del

Protein change:

S442del

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001528; dbSNP: rs879255037

NCBI 1000 Genomes Browser:

rs879255037

Molecular consequence:

NM_000527.5:c.1829_1831del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195798.2:c.1829_1831del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195799.2:c.1706_1708del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195800.2:c.1325_1327del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195803.2:c.1448_1450del - inframe_deletion - [Sequence Ontology: SO:0001822]

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000295682	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely pathogenic (Mar 25, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV000583888	U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 30, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV002037114	Institute of Human Genetics, Cologne University	no assertion criteria provided	Likely pathogenic	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000295682

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely pathogenic
(Mar 25, 2016)

germline

literature only

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

Citation Link,

SCV000583888

U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 30, 2017)

germline

clinical testing

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

SCV002037114

Institute of Human Genetics, Cologne University

no assertion criteria provided

Likely pathogenic

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	1	not provided	1	not provided	clinical testing, literature only
not provided	de novo	unknown	1	not provided	not provided	not provided	not provided	clinical testing

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295682.2

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

#	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

From U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille, SCV000583888.1

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

Description

Dutch Lipid Clinic Scoring : Definite FH

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

From Institute of Human Genetics, Cologne University, SCV002037114.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	unknown	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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