NM_000527.5(LDLR):c.310T>C (p.Cys104Arg) AND Hypercholesterolemia, familial, 1

Germline classification:: Likely 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:: RCV000238177.1

Allele description [Variation Report for NM_000527.5(LDLR):c.310T>C (p.Cys104Arg)]

NM_000527.5(LDLR):c.310T>C (p.Cys104Arg)

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.310T>C (p.Cys104Arg)

HGVS:

NC_000019.10:g.11102783T>C
NG_009060.1:g.18403T>C
NM_000527.5:c.310T>CMANE SELECT
NM_001195798.2:c.310T>C
NM_001195799.2:c.191-2437T>C
NM_001195800.2:c.310T>C
NM_001195803.2:c.310T>C
NP_000518.1:p.Cys104Arg
NP_001182727.1:p.Cys104Arg
NP_001182729.1:p.Cys104Arg
NP_001182732.1:p.Cys104Arg
LRG_274:g.18403T>C
NC_000019.9:g.11213459T>C
c.310T>C

Protein change:

C104R

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001691; dbSNP: rs879254464

NCBI 1000 Genomes Browser:

rs879254464

Molecular consequence:

NM_001195799.2:c.191-2437T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000527.5:c.310T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.310T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195800.2:c.310T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.310T>C - 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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166220 (1)
OMIM
DHDDS dehydrodolichyl diphosphate synthase subunit [Homo sapiens]
DHDDS dehydrodolichyl diphosphate synthase subunit [Homo sapiens]
Gene ID:79947

Gene
Gene Links for GEO Profiles (Select 56920461) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000294597	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely pathogenic (Mar 25, 2016)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 20809525, 21376320 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000294597

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely pathogenic
(Mar 25, 2016)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	2	not provided	not provided	2	not provided	literature only

Citations

PubMed

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network., Boileau C, Varret M, Rabès JP.

Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348.

PubMed [citation]

PMID:: 20809525
PMCID:: PMC3152176

Array-based resequencing for mutations causing familial hypercholesterolemia.

Chiou KR, Charng MJ, Chang HM.

Atherosclerosis. 2011 Jun;216(2):383-9. doi: 10.1016/j.atherosclerosis.2011.02.006. Epub 2011 Mar 3.

PubMed [citation]

PMID:: 21376320

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294597.2

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

#	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
2	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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