NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu) AND Hypercholesterolemia, familial, 1

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Oct 2, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV000237801.3

Allele description [Variation Report for NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu)]

NM_000527.5(LDLR):c.1502C>A (p.Ala501Glu)

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.1502C>A (p.Ala501Glu)

HGVS:

NC_000019.10:g.11113678C>A
NG_009060.1:g.29298C>A
NM_000527.5:c.1502C>AMANE SELECT
NM_001195798.2:c.1502C>A
NM_001195799.2:c.1379C>A
NM_001195800.2:c.998C>A
NM_001195803.2:c.1121C>A
NP_000518.1:p.Ala501Glu
NP_001182727.1:p.Ala501Glu
NP_001182728.1:p.Ala460Glu
NP_001182729.1:p.Ala333Glu
NP_001182732.1:p.Ala374Glu
LRG_274t1:c.1502C>A
LRG_274:g.29298C>A
NC_000019.9:g.11224354C>A
NM_000527.4:c.1502C>A
c.1502C>A
p.Ala501Glu

Protein change:

A333E

Links:

LDLR-LOVD, British Heart Foundation: LDLR_000893; dbSNP: rs755667663

NCBI 1000 Genomes Browser:

rs755667663

Molecular consequence:

NM_000527.5:c.1502C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.1502C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.1379C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195800.2:c.998C>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.1121C>A - 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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Il13ra1 interleukin 13 receptor, alpha 1 [Mus musculus]
Il13ra1 interleukin 13 receptor, alpha 1 [Mus musculus]
Gene ID:16164

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000295470	LDLR-LOVD, British Heart Foundation	criteria provided, single submitter (ACGS Guidelines, 2013)	Likely pathogenic (Mar 25, 2016)	germline	literature only	PubMed (4) [See all records that cite these PMIDs] 15256764, 16205024, 16806138, 23375686 Citation Link,
SCV004836846	All of Us Research Program, National Institutes of Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain Significance (Oct 2, 2023)	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

SCV000295470

LDLR-LOVD, British Heart Foundation

criteria provided, single submitter

(ACGS Guidelines, 2013)

Likely pathogenic
(Mar 25, 2016)

germline

literature only

PubMed (4)
[See all records that cite these PMIDs]

Citation Link,

SCV004836846

All of Us Research Program, National Institutes of Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain Significance
(Oct 2, 2023)

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	4	not provided	not provided	4	not provided	literature only
not provided	germline	unknown	1	not provided	not provided	108544	not provided	clinical testing

Citations

PubMed

Mutations in Japanese subjects with primary hyperlipidemia--results from the Research Committee of the Ministry of Health and Welfare of Japan since 1996--.

Maruyama T, Yamashita S, Matsuzawa Y, Bujo H, Takahashi K, Saito Y, Ishibashi S, Ohashi K, Shionoiri F, Gotoda T, Yamada N, Kita T; Research Committee on Primary Hyperlipidemia of the Ministry of Health and Welfare of Japan..

J Atheroscler Thromb. 2004;11(3):131-45.

PubMed [citation]

PMID:: 15256764

Low density lipoprotein--receptor (LDL-R) gene mutations among Filipinos with familial hypercholesterolemia.

Punzalan FE, Sy RG, Santos RS, Cutiongco EM, Gosiengfiao S, Fadriguilan E, George P, Laurie A.

J Atheroscler Thromb. 2005;12(5):276-83.

PubMed [citation]

PMID:: 16205024

See all PubMed Citations (5)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295470.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (4)
2	not provided	1	not provided	not provided	literature only	PubMed (4)
3	not provided	1	not provided	not provided	literature only	PubMed (4)
4	not provided	1	not provided	not provided	literature only	PubMed (4)

#	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
3	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided
4	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

From All of Us Research Program, National Institutes of Health, SCV004836846.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	108544	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Oct 20, 2024

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