NM_000527.5(LDLR):c.346T>C (p.Cys116Arg) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic/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:: RCV000237774.4

Allele description [Variation Report for NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)]

NM_000527.5(LDLR):c.346T>C (p.Cys116Arg)

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.346T>C (p.Cys116Arg)

Other names:

FH Alghero

HGVS:

NC_000019.10:g.11105252T>C
NG_009060.1:g.20872T>C
NM_000527.5:c.346T>CMANE SELECT
NM_001195798.2:c.346T>C
NM_001195799.2:c.223T>C
NM_001195800.2:c.314-2140T>C
NM_001195803.2:c.314-1313T>C
NP_000518.1:p.Cys116Arg
NP_000518.1:p.Cys116Arg
NP_001182727.1:p.Cys116Arg
NP_001182728.1:p.Cys75Arg
LRG_274t1:c.346T>C
LRG_274:g.20872T>C
LRG_274p1:p.Cys116Arg
NC_000019.9:g.11215928T>C
NM_000527.4:c.346T>C
P01130:p.Cys116Arg
c.346T>C

Protein change:

C116R

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000360; UniProtKB: P01130#VAR_005317; dbSNP: rs879254482

NCBI 1000 Genomes Browser:

rs879254482

Molecular consequence:

NM_001195800.2:c.314-2140T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.314-1313T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000527.5:c.346T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.346T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.223T>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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000294642	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] 10206683, 10634824 Citation Link,
SCV000607450	Fundacion Hipercolesterolemia Familiar - SAFEHEART	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 1, 2016)	germline	research	PubMed (2) [See all records that cite these PMIDs] 25741868, 25545329

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000294642

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,

SCV000607450

Fundacion Hipercolesterolemia Familiar - SAFEHEART

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 1, 2016)

germline

research

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	germline	yes	2	not provided	not provided	2	not provided	literature only
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Identification of recurrent and novel mutations in the LDL receptor gene in Spanish patients with familial hypercholesterolemia. Mutations in brief no. 135. Online.

Cenarro A, Jensen HK, Casao E, Civeira F, González-Bonillo J, Rodríguez-Rey JC, Gregersen N, Pocoví M.

Hum Mutat. 1998;11(5):413.

PubMed [citation]

PMID:: 10206683

Influence of beta(0)-thalassemia on the phenotypic expression of heterozygous familial hypercholesterolemia : a study of patients with familial hypercholesterolemia from Sardinia.

Deiana L, Garuti R, Pes GM, Carru C, Errigo A, Rolleri M, Pisciotta L, Masturzo P, Cantafora A, Calandra S, Bertolini S.

Arterioscler Thromb Vasc Biol. 2000 Jan;20(1):236-43.

PubMed [citation]

PMID:: 10634824

See all PubMed Citations (4)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294642.2

#	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

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607450.1

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

Description

"Heterologous cells (CHO), FACS assays"

PubMed [ID: 25545329]

#	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	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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