NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 5, 2016
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:: RCV000454988.1

Allele description [Variation Report for NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs)]

NM_000527.5(LDLR):c.2180_2184dup (p.Leu729fs)

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.2180_2184dup (p.Leu729fs)

HGVS:

NC_000019.10:g.11123213_11123217dup
NG_009060.1:g.38833_38837dup
NM_000527.5:c.2180_2184dupMANE SELECT
NM_001195798.2:c.2180_2184dup
NM_001195799.2:c.2057_2061dup
NM_001195800.2:c.1676_1680dup
NM_001195803.2:c.1646_1650dup
NP_000518.1:p.Leu729fs
NP_001182727.1:p.Leu729fs
NP_001182728.1:p.Leu688fs
NP_001182729.1:p.Leu561fs
NP_001182732.1:p.Leu551fs
LRG_274:g.38833_38837dup
NC_000019.9:g.11233889_11233893dup
NM_000527.4:c.2180_2184dupTCAGG
p.Leu729Serfs*3

Protein change:

L551fs

Links:

dbSNP: rs1555808044

NCBI 1000 Genomes Browser:

rs1555808044

Molecular consequence:

NM_000527.5:c.2180_2184dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.2180_2184dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.2057_2061dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.1676_1680dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.1646_1650dup - frameshift variant - [Sequence Ontology: SO:0001589]

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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000540864	Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation See additional submitters Centre of Molecular Biology and Gene Therapy, University Hospital Brno	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 5, 2016)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000540864

Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation

See additional submitters

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 5, 2016)

unknown

clinical testing

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
Caucasian	unknown	yes	1	1	not provided	3964	not provided	clinical testing

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 Molecular Genetics Laboratory, Centre for Cardiovascular Surgery and Transplantation, SCV000540864.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	yes	3964	Whole blood	not provided		1	not provided	1	not provided

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine