NM_000527.5(LDLR):c.532G>A (p.Asp178Asn) AND Hypercholesterolemia, familial, 1

Germline classification:: 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:: RCV000237892.1

Allele description [Variation Report for NM_000527.5(LDLR):c.532G>A (p.Asp178Asn)]

NM_000527.5(LDLR):c.532G>A (p.Asp178Asn)

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.532G>A (p.Asp178Asn)

HGVS:

NC_000019.10:g.11105438G>A
NG_009060.1:g.21058G>A
NM_000527.5:c.532G>AMANE SELECT
NM_001195798.2:c.532G>A
NM_001195799.2:c.409G>A
NM_001195800.2:c.314-1954G>A
NM_001195803.2:c.314-1127G>A
NP_000518.1:p.Asp178Asn
NP_000518.1:p.Asp178Asn
NP_001182727.1:p.Asp178Asn
NP_001182728.1:p.Asp137Asn
LRG_274t1:c.532G>A
LRG_274:g.21058G>A
LRG_274p1:p.Asp178Asn
NC_000019.9:g.11216114G>A
NM_000527.4:c.532G>A
c.532G>A

Protein change:

D137N

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000702; dbSNP: rs879254565

NCBI 1000 Genomes Browser:

rs879254565

Molecular consequence:

NM_001195800.2:c.314-1954G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001195803.2:c.314-1127G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_000527.5:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.532G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.409G>A - 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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CD55 [Pan paniscus]
Gene ID:100983678

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000294775	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] 10657581, 19318025 Citation Link,
SCV000607471	Fundacion Hipercolesterolemia Familiar - SAFEHEART	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Mar 1, 2016)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000294775

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,

SCV000607471

Fundacion Hipercolesterolemia Familiar - SAFEHEART

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Mar 1, 2016)

germline

research

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	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

Familial hypercholesterolemia in Austria reflects the multi-ethnic origin of our country.

Schmidt H, Kostner GM.

Atherosclerosis. 2000 Feb;148(2):431-2. No abstract available.

PubMed [citation]

PMID:: 10657581

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P.

Clin Biochem. 2009 Jun;42(9):899-903. doi: 10.1016/j.clinbiochem.2009.01.017. Epub 2009 Feb 6.

PubMed [citation]

PMID:: 19318025

See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294775.2

#	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, SCV000607471.1

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

#	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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