NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter) AND Familial type 3 hyperlipoproteinemia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jun 7, 2020
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:: RCV001269386.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)]

NM_000527.5(LDLR):c.1010_1013dup (p.Cys338Ter)

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.1010_1013dup (p.Cys338Ter)

HGVS:

NC_000019.10:g.11110721_11110724dup
NC_000019.10:g.11110723_11110724insGAGT
NG_009060.1:g.26341_26344dup
NM_000527.5:c.1010_1013dupMANE SELECT
NM_001195798.2:c.1010_1013dup
NM_001195799.2:c.887_890dup
NM_001195800.2:c.506_509dup
NM_001195803.2:c.629_632dup
NP_000518.1:p.Cys338Ter
NP_001182727.1:p.Cys338Ter
NP_001182728.1:p.Cys297Ter
NP_001182729.1:p.Cys170Ter
NP_001182732.1:p.Cys211Ter
LRG_274t1:c.1012_1013insGAGT
LRG_274:g.26341_26344dup
NC_000019.9:g.11221395_11221396insGAGT
NC_000019.9:g.11221397_11221400dup
NC_000019.9:g.11221397_11221400dup
NM_000527.4:c.1012_1013insGAGT

Protein change:

C170*

Links:

dbSNP: rs2077362782

NCBI 1000 Genomes Browser:

rs2077362782

Molecular consequence:

NM_000527.5:c.1010_1013dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001195798.2:c.1010_1013dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001195799.2:c.887_890dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001195800.2:c.506_509dup - nonsense - [Sequence Ontology: SO:0001587]
NM_001195803.2:c.629_632dup - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Familial type 3 hyperlipoproteinemia
Synonyms:: Hyperlipoproteinemia type 3; Hyperlipoproteinemia type III; Dysbetalipoproteinemia; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0018473; MedGen: C0020479; OMIM: 617347

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001335260	Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences See additional submitters Children’s Center Hospital, Tehran University of Medical Sciences	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jun 7, 2020)	inherited	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001335260

Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jun 7, 2020)

inherited

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	inherited	no	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

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 Cardiogenetic Research Center, Rajaie Cardiovascular Medical and Research Center, Iran University of Medical Sciences, SCV001335260.1

#	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	inherited	no	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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