NM_000527.5(LDLR):c.1502dup (p.Asp502fs) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Mar 25, 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:: RCV000237253.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1502dup (p.Asp502fs)]

NM_000527.5(LDLR):c.1502dup (p.Asp502fs)

Gene:

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

Variant type:

Duplication

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.5(LDLR):c.1502dup (p.Asp502fs)

HGVS:

NC_000019.10:g.11113678dup
NG_009060.1:g.29298dup
NM_000527.5:c.1502dupMANE SELECT
NM_001195798.2:c.1502dup
NM_001195799.2:c.1379dup
NM_001195800.2:c.998dup
NM_001195803.2:c.1121dup
NP_000518.1:p.Asp502fs
NP_000518.1:p.Asp502fs
NP_001182727.1:p.Asp502fs
NP_001182728.1:p.Asp461fs
NP_001182729.1:p.Asp334fs
NP_001182732.1:p.Asp375fs
LRG_274t1:c.1502dup
LRG_274:g.29298dup
LRG_274p1:p.Asp502fs
NC_000019.9:g.11224354dup
NM_000527.4:c.1502dup
c.1502dupC

Protein change:

D334fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000847; dbSNP: rs879254924

NCBI 1000 Genomes Browser:

rs879254924

Molecular consequence:

NM_000527.5:c.1502dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.1502dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.1379dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.998dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.1121dup - frameshift variant - [Sequence Ontology: SO:0001589]

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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AP-5 complex subunit mu-1 [Mus musculus]
AP-5 complex subunit mu-1 [Mus musculus]
gi|225543139|ref|NP_653118.3|

Protein
CP-PfRrp6-DD-1C-Input_R_rep1_ChIRP-seq
CP-PfRrp6-DD-1C-Input_R_rep1_ChIRP-seq

biosample
WT_3D7-G7_R_rep1_RNA-seq
WT_3D7-G7_R_rep1_RNA-seq

biosample
Tssr105760 AND (alive[prop]) (0)
Gene
SRX8243341 (1)
SRA

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000295472	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Pathogenic (Mar 25, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV000607605	Fundacion Hipercolesterolemia Familiar - SAFEHEART	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 1, 2016)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000295472

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Pathogenic
(Mar 25, 2016)

germline

literature only

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

Citation Link,

SCV000607605

Fundacion Hipercolesterolemia Familiar - SAFEHEART

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 1, 2016)

germline

research

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	1	not provided	not provided	1	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Molecular characterization of familial hypercholesterolemia in Spain: identification of 39 novel and 77 recurrent mutations in LDLR.

Mozas P, Castillo S, Tejedor D, Reyes G, Alonso R, Franco M, Saenz P, Fuentes F, Almagro F, Mata P, Pocoví M.

Hum Mutat. 2004 Aug;24(2):187.

PubMed [citation]

PMID:: 15241806

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, SCV000295472.2

#	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 Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607605.1

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

#	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: Aug 5, 2023

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