NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser) AND Hypercholesterolemia, familial, 1

Germline classification:: Likely benign (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:: RCV000238442.3

Allele description [Variation Report for NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser)]

NM_000527.5(LDLR):c.1834G>T (p.Ala612Ser)

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.1834G>T (p.Ala612Ser)

HGVS:

NC_000019.10:g.11116987G>T
NG_009060.1:g.32607G>T
NM_000527.5:c.1834G>TMANE SELECT
NM_001195798.2:c.1834G>T
NM_001195799.2:c.1711G>T
NM_001195800.2:c.1330G>T
NM_001195803.2:c.1453G>T
NP_000518.1:p.Ala612Ser
NP_000518.1:p.Ala612Ser
NP_001182727.1:p.Ala612Ser
NP_001182728.1:p.Ala571Ser
NP_001182729.1:p.Ala444Ser
NP_001182732.1:p.Ala485Ser
LRG_274t1:c.1834G>T
LRG_274:g.32607G>T
LRG_274p1:p.Ala612Ser
NC_000019.9:g.11227663G>T
NM_000527.4:c.1834G>T
c.1834G>T

Protein change:

A444S

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000248; dbSNP: rs879255042

NCBI 1000 Genomes Browser:

rs879255042

Molecular consequence:

NM_000527.5:c.1834G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.1834G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.1711G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195800.2:c.1330G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.1453G>T - 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
SCV000295689	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely benign (Mar 25, 2016)	germline	literature only	PubMed (1) [See all records that cite this PMID] Citation Link,
SCV000606528	Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum	no assertion criteria provided	Benign	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000295689

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely benign
(Mar 25, 2016)

germline

literature only

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

Citation Link,

SCV000606528

Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde, Academisch Medisch Centrum

no assertion criteria provided

Benign

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	research
not provided	germline	yes	1	not provided	not provided	1	not provided	literature only

Citations

PubMed

Molecular characterization of Polish patients with familial hypercholesterolemia: novel and recurrent LDLR mutations.

Chmara M, Wasag B, Zuk M, Kubalska J, Wegrzyn A, Bednarska-Makaruk M, Pronicka E, Wehr H, Defesche JC, Rynkiewicz A, Limon J.

J Appl Genet. 2010;51(1):95-106. doi: 10.1007/BF03195716.

PubMed [citation]

PMID:: 20145306

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295689.2

#	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, SCV000606528.1

#	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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