NM_000527.5(LDLR):c.722T>C (p.Phe241Ser) AND Hypercholesterolemia, familial, 1

Germline classification:: Likely pathogenic (2 submissions)
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:: RCV000237332.3

Allele description [Variation Report for NM_000527.5(LDLR):c.722T>C (p.Phe241Ser)]

NM_000527.5(LDLR):c.722T>C (p.Phe241Ser)

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.722T>C (p.Phe241Ser)

HGVS:

NC_000019.10:g.11106592T>C
NG_009060.1:g.22212T>C
NM_000527.5:c.722T>CMANE SELECT
NM_001195798.2:c.722T>C
NM_001195799.2:c.599T>C
NM_001195800.2:c.314-800T>C
NM_001195803.2:c.341T>C
NP_000518.1:p.Phe241Ser
NP_000518.1:p.Phe241Ser
NP_001182727.1:p.Phe241Ser
NP_001182728.1:p.Phe200Ser
NP_001182732.1:p.Phe114Ser
LRG_274t1:c.722T>C
LRG_274:g.22212T>C
LRG_274p1:p.Phe241Ser
NC_000019.9:g.11217268T>C
NM_000527.4:c.722T>C
c.722T>C

Protein change:

F114S

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000674; dbSNP: rs748131256

NCBI 1000 Genomes Browser:

rs748131256

Molecular consequence:

NM_001195800.2:c.314-800T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_000527.5:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.722T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.599T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.341T>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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LOC114380362 [Glycine soja]
LOC114380362 [Glycine soja]
Gene ID:114380362

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000294940	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,
SCV000606210	Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	no assertion criteria provided	Pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000294940

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,

SCV000606210

Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum

no assertion criteria provided

Pathogenic

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
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	research

Citations

PubMed

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

Humphries SE, Cranston T, Allen M, Middleton-Price H, Fernandez MC, Senior V, Hawe E, Iversen A, Wray R, Crook MA, Wierzbicki AS.

J Mol Med (Berl). 2006 Mar;84(3):203-14. Epub 2005 Dec 31.

PubMed [citation]

PMID:: 16389549

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294940.2

#	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 Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum, SCV000606210.1

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

#	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

Last Updated: Aug 5, 2023

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