NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) AND not provided

Germline classification:: Likely benign (2 submissions)
Last evaluated:: Aug 27, 2020
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:: RCV001284645.4

Allele description [Variation Report for NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)]

NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp)

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.2289G>T (p.Glu763Asp)

HGVS:

NC_000019.10:g.11123322G>T
NG_009060.1:g.38942G>T
NM_000527.5:c.2289G>TMANE SELECT
NM_001195798.2:c.2289G>T
NM_001195799.2:c.2166G>T
NM_001195800.2:c.1785G>T
NM_001195803.2:c.1755G>T
NP_000518.1:p.Glu763Asp
NP_000518.1:p.Glu763Asp
NP_001182727.1:p.Glu763Asp
NP_001182728.1:p.Glu722Asp
NP_001182729.1:p.Glu595Asp
NP_001182732.1:p.Glu585Asp
LRG_274t1:c.2289G>T
LRG_274:g.38942G>T
LRG_274p1:p.Glu763Asp
NC_000019.9:g.11233998G>T
NM_000527.4:c.2289G>T
c.2289G>T

Protein change:

E585D

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001621; dbSNP: rs774698247

NCBI 1000 Genomes Browser:

rs774698247

Molecular consequence:

NM_000527.5:c.2289G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.2289G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.2166G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195800.2:c.1785G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.1755G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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
SCV001470535	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Likely benign (Aug 27, 2020)	unknown	clinical testing	PubMed (5) [See all records that cite these PMIDs] 22883975, 29720182, 25057385, 25682442, 26467025
SCV002504162	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely benign (Jul 30, 2018)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001470535

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Likely benign
(Aug 27, 2020)

unknown

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

SCV002504162

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely benign
(Jul 30, 2018)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Genetic analysis of familial hypercholesterolaemia in Western Australia.

Hooper AJ, Nguyen LT, Burnett JR, Bates TR, Bell DA, Redgrave TG, Watts GF, van Bockxmeer FM.

Atherosclerosis. 2012 Oct;224(2):430-4. doi: 10.1016/j.atherosclerosis.2012.07.030. Epub 2012 Jul 27.

PubMed [citation]

PMID:: 22883975

Spectrum of low-density lipoprotein receptor (LDLR) mutations in a cohort of Sri Lankan patients with familial hypercholesterolemia - a preliminary report.

Paththinige CS, Rajapakse JRDK, Constantine GR, Sem KP, Singaraja RR, Jayasekara RW, Dissanayake VHW.

Lipids Health Dis. 2018 May 2;17(1):100. doi: 10.1186/s12944-018-0763-z.

PubMed [citation]

PMID:: 29720182
PMCID:: PMC5932885

See all PubMed Citations (5)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001470535.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

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

From GeneDx, SCV002504162.2

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

Description

See Variant Classification Assertion Criteria.

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

Last Updated: Sep 29, 2024

ClinVar

Relating variation to medicine