NM_000527.5(LDLR):c.416A>T (p.Asp139Val) AND Hypercholesterolemia, familial, 1

Germline classification:: Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:: Mar 30, 2017
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:: RCV000237650.5

Allele description [Variation Report for NM_000527.5(LDLR):c.416A>T (p.Asp139Val)]

NM_000527.5(LDLR):c.416A>T (p.Asp139Val)

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.416A>T (p.Asp139Val)

HGVS:

NC_000019.10:g.11105322A>T
NG_009060.1:g.20942A>T
NM_000527.5:c.416A>TMANE SELECT
NM_001195798.2:c.416A>T
NM_001195799.2:c.293A>T
NM_001195800.2:c.314-2070A>T
NM_001195803.2:c.314-1243A>T
NP_000518.1:p.Asp139Val
NP_000518.1:p.Asp139Val
NP_001182727.1:p.Asp139Val
NP_001182728.1:p.Asp98Val
LRG_274t1:c.416A>T
LRG_274:g.20942A>T
LRG_274p1:p.Asp139Val
NC_000019.9:g.11215998A>T
NM_000527.4:c.416A>T
c.416A>T

Protein change:

D139V

Links:

LDLR-LOVD, British Heart Foundation: LDLR_001728; dbSNP: rs879254518

NCBI 1000 Genomes Browser:

rs879254518

Molecular consequence:

NM_001195800.2:c.314-2070A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.314-1243A>T - intron variant - [Sequence Ontology: SO:0001627]
NM_000527.5:c.416A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.416A>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.293A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000294696	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, 23375686 Citation Link,
SCV000583672	U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Mar 30, 2017)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000294696

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,

SCV000583672

U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Mar 30, 2017)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	6	1	not provided	2	not provided	clinical testing, 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

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

Bertolini S, Pisciotta L, Rabacchi C, Cefalù AB, Noto D, Fasano T, Signori A, Fresa R, Averna M, Calandra S.

Atherosclerosis. 2013 Apr;227(2):342-8. doi: 10.1016/j.atherosclerosis.2013.01.007. Epub 2013 Jan 19.

PubMed [citation]

PMID:: 23375686

See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294696.2

#	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 U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille, SCV000583672.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	4	not provided	not provided	clinical testing	PubMed (1)

Description

Dutch Lipid Clinic Scoring : Definite FH

#	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		4	not provided	1	not provided

Last Updated: Jun 23, 2024

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