NM_000527.5(LDLR):c.1187del AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 21, 2024
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:: RCV004999375.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1187del]

NM_000527.5(LDLR):c.1187del

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.1187del

HGVS:

NC_000019.10:g.11113278del
NG_009060.1:g.28898del
NM_000527.5:c.1187delMANE SELECT
LRG_274t1:c.1187del
LRG_274:g.28898del
NC_000019.9:g.11223953del
NC_000019.9:g.11223954del
NM_000527.4:c.1187del
NM_000527.4:c.1187delG
p.(Gly396Alafs*17)
p.Gly396Alafs*17

Links:

dbSNP: rs1057519667

Molecular consequence:

NM_000527.5:c.1187del - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005625805	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	pathogenic (Oct 21, 2024)	unknown	clinical testing	PubMed (3) [See all records that cite these PMIDs] 34297352, 30710474, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005625805

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

pathogenic
(Oct 21, 2024)

unknown

clinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Di Taranto MD, Giacobbe C, Palma D, Iannuzzo G, Gentile M, Calcaterra I, Guardamagna O, Auricchio R, Di Minno MND, Fortunato G.

Clin Genet. 2021 Nov;100(5):529-541. doi: 10.1111/cge.14036. Epub 2021 Aug 3.

PubMed [citation]

PMID:: 34297352
PMCID:: PMC9291778

Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio.

Di Taranto MD, de Falco R, Guardamagna O, Massini G, Giacobbe C, Auricchio R, Malamisura B, Proto M, Palma D, Greco L, Fortunato G.

Clin Chem Lab Med. 2019 Jun 26;57(7):1102-1110. doi: 10.1515/cclm-2018-1037.

PubMed [citation]

PMID:: 30710474

See all PubMed Citations (3)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV005625805.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (3)

Description

The LDLR c.1187del (p.Gly396Alafs*17) variant alters the translational reading frame of the LDLR mRNA and causes the premature termination of LDLR protein synthesis. In the published literature, this variant has been reported in individual(s) with a personal and/or family history of familial hypercholesterolemia (PMIDs: 34297352 (2021), 30710474 (2019)). This variant has not been reported in large, multi-ethnic general populations (Genome Aggregation Database, http://gnomad.broadinstitute.org). Based on the available information, this variant is classified as pathogenic.

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

Last Updated: Apr 12, 2026

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