NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg) AND Hypercholesterolemia, familial, 1

Germline classification:: Likely 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:: RCV000237359.2

Allele description [Variation Report for NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg)]

NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_000527.5(LDLR):c.2413G>A (p.Gly805Arg)

HGVS:

NC_000019.10:g.11129536G>A
NG_009060.1:g.45156G>A
NM_000527.5:c.2413G>AMANE SELECT
NM_001195798.2:c.2413G>A
NM_001195799.2:c.2290G>A
NM_001195800.2:c.1909G>A
NM_001195803.2:c.1879G>A
NP_000518.1:p.Gly805Arg
NP_000518.1:p.Gly805Arg
NP_001182727.1:p.Gly805Arg
NP_001182728.1:p.Gly764Arg
NP_001182729.1:p.Gly637Arg
NP_001182732.1:p.Gly627Arg
LRG_274t1:c.2413G>A
LRG_274:g.45156G>A
LRG_274p1:p.Gly805Arg
NC_000019.9:g.11240212G>A
NM_000527.4:c.2413G>A
c.2413G>A

Protein change:

G627R

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001645; dbSNP: rs879255204

NCBI 1000 Genomes Browser:

rs879255204

Molecular consequence:

NM_000527.5:c.2413G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.2413G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.2290G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195800.2:c.1909G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.1879G>A - missense variant - [Sequence Ontology: SO:0001583]

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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DGKK [Equus asinus]
DGKK [Equus asinus]
Gene ID:106822121

Gene
NAGPA [Taeniopygia guttata]
NAGPA [Taeniopygia guttata]
Gene ID:100217812

Gene
AGL [Taeniopygia guttata]
AGL [Taeniopygia guttata]
Gene ID:100217722

Gene
Profile neighbors for GEO Profiles (Select 71997008) (87)
GEO Profiles
Chromosome neighbors for GEO Profiles (Select 77134833) (20)
GEO Profiles

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000295999	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely pathogenic (Mar 25, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV000599418	Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2016)	germline, not applicable	curation, literature only	PubMed (2) [See all records that cite these PMIDs] 25741868, 24918045

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000295999

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely pathogenic
(Mar 25, 2016)

germline

literature only

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

Citation Link,

SCV000599418

Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2016)

germline, not applicable

curation, literature only

PubMed (2)
[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	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	literature only
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	curation

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

Mutation G805R in the transmembrane domain of the LDL receptor gene causes familial hypercholesterolemia by inducing ectodomain cleavage of the LDL receptor in the endoplasmic reticulum.

Strøm TB, Tveten K, Laerdahl JK, Leren TP.

FEBS Open Bio. 2014;4:321-7. doi: 10.1016/j.fob.2014.03.007.

PubMed [citation]

PMID:: 24918045
PMCID:: PMC4048843

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295999.2

#	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 Cardiovascular Research Group, Instituto Nacional de Saude Doutor Ricardo Jorge, SCV000599418.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	PubMed (2)
2	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

"Assay Description:Transfected HepG2 cells, WB"

PubMed [ID: 24918045]

#	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
2	not applicable	not applicable	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Aug 5, 2023

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