NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Mar 29, 2022
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:: RCV002444850.3

Allele description [Variation Report for NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)]

NM_000527.5(LDLR):c.2397_2405del (p.Val800_Leu802del)

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.2397_2405del (p.Val800_Leu802del)

HGVS:

NC_000019.10:g.11129520_11129528del
NG_009060.1:g.45140_45148del
NM_000527.5:c.2397_2405delMANE SELECT
NM_001195798.2:c.2397_2405del
NM_001195799.2:c.2274_2282del
NM_001195800.2:c.1893_1901del
NM_001195803.2:c.1863_1871del
NP_000518.1:p.Val800_Leu802del
NP_001182727.1:p.Val800_Leu802del
NP_001182728.1:p.Val759_Leu761del
NP_001182729.1:p.Val632_Leu634del
NP_001182732.1:p.Val622_Leu624del
LRG_274:g.45140_45148del
NC_000019.9:g.11240192_11240200del
NC_000019.9:g.11240196_11240204del
NM_000527.4:c.2397_2405delCGTCTTCCT
NM_000527.5:c.2397_2405delCGTCTTCCTMANE SELECT
NP_000518.1:p.L799_F801del
c.2397_2405del

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000973; OMIM: 606945.0055

Molecular consequence:

NM_000527.5:c.2397_2405del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195798.2:c.2397_2405del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195799.2:c.2274_2282del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195800.2:c.1893_1901del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001195803.2:c.1863_1871del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002732429	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Mar 29, 2022)	germline	clinical testing	PubMed (11) [See all records that cite these PMIDs] 10090484, 11810272, 11857755, 15241806, 25461735, 27578128, 27919364, 30795984, 32719484, 9143924, 9147888 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002732429

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Mar 29, 2022)

germline

clinical testing

PubMed (11)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Mutation analysis in 46 German families with familial hypercholesterolemia: identification of 8 new mutations. Mutations in brief no. 226. Online.

Ebhardt M, Schmidt H, Doerk T, Tietge U, Haas R, Manns MP, Schmidtke J, Stuhrmann M.

Hum Mutat. 1999;13(3):257.

PubMed [citation]

PMID:: 10090484

The molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Defesche JC, Umans-Eckenhausen MW, Kastelein JP.

Hum Genet. 2001 Dec;109(6):602-15. Epub 2001 Nov 9.

PubMed [citation]

PMID:: 11810272

See all PubMed Citations (11)

Details of each submission

From Ambry Genetics, SCV002732429.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (11)

Description

The c.2397_2405delCGTCTTCCT variant (also known as p.V800_L802del) is located in coding exon 17 of the LDLR gene. This variant results from an in-frame CGTCTTCCT deletion at nucleotide positions 2397 to 2405. This results in the in-frame deletion of a at codon 800. This alteration has been reported in familial hypercholesterolemia (FH) cohorts and is often described on the same chromosome, or in cis, with the alteration, p.N564H (Alonso R et al. J Clin Lipidol Apr;10:953-961; Lombardi P et al. Clin Genet, 1996 Dec;50:525-6; Jensen HK et al. Atherosclerosis, 1999 Oct;146:337-44; Ebhardt M et al. Hum Mutat, 1999;13:257; Fouchier SW et al. Hum Genet, 2001 Dec;109:602-15; Mozas P et al. Hum Mutat, 2004 Aug;24:187; Martín-Campos JM et al. J Clin Lipidol Sep;12:1452-1462). This alteration was also detected in a cohort of 29,906 healthy individuals who underwent multigene panel testing (Grzymski JJ et al. Nat Med, 2020 08;26:1235-1239). This amino acid position ranges from not well to poorly conserved in available vertebrate species. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Oct 8, 2024

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