NM_000527.5(LDLR):c.1766del (p.Asp589fs) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 25, 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:: RCV000238569.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1766del (p.Asp589fs)]

NM_000527.5(LDLR):c.1766del (p.Asp589fs)

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.1766del (p.Asp589fs)

HGVS:

NC_000019.10:g.11116919del
NG_009060.1:g.32539del
NM_000527.5:c.1766delMANE SELECT
NM_001195798.2:c.1766del
NM_001195799.2:c.1643del
NM_001195800.2:c.1262del
NM_001195803.2:c.1385del
NP_000518.1:p.Asp589fs
NP_001182727.1:p.Asp589fs
NP_001182728.1:p.Asp548fs
NP_001182729.1:p.Asp421fs
NP_001182732.1:p.Asp462fs
LRG_274:g.32539del
NC_000019.9:g.11227595del
NC_000019.9:g.11227595delA
c.1766delA

Protein change:

D421fs

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001520; dbSNP: rs879255016

NCBI 1000 Genomes Browser:

rs879255016

Molecular consequence:

NM_000527.5:c.1766del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195798.2:c.1766del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195799.2:c.1643del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195800.2:c.1262del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001195803.2:c.1385del - 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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000295646	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Pathogenic (Mar 25, 2016)	germline	research	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000295646

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Pathogenic
(Mar 25, 2016)

germline

research

Citation Link

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	research

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295646.2

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

#	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

Last Updated: Aug 5, 2023

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