NM_000527.5(LDLR):c.1580T>C (p.Val527Ala) AND not provided

Germline classification:: Uncertain significance (2 submissions)
Last evaluated:: Aug 2, 2019
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:: RCV000161995.4

Allele description [Variation Report for NM_000527.5(LDLR):c.1580T>C (p.Val527Ala)]

NM_000527.5(LDLR):c.1580T>C (p.Val527Ala)

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.1580T>C (p.Val527Ala)

HGVS:

NC_000019.10:g.11113756T>C
NG_009060.1:g.29376T>C
NM_000527.5:c.1580T>CMANE SELECT
NM_001195798.2:c.1580T>C
NM_001195799.2:c.1457T>C
NM_001195800.2:c.1076T>C
NM_001195803.2:c.1199T>C
NP_000518.1:p.Val527Ala
NP_000518.1:p.Val527Ala
NP_001182727.1:p.Val527Ala
NP_001182728.1:p.Val486Ala
NP_001182729.1:p.Val359Ala
NP_001182732.1:p.Val400Ala
LRG_274t1:c.1580T>C
LRG_274:g.29376T>C
LRG_274p1:p.Val527Ala
NC_000019.9:g.11224432T>C
NM_000527.4:c.1580T>C

Protein change:

V359A

Links:

dbSNP: rs730882107

NCBI 1000 Genomes Browser:

rs730882107

Molecular consequence:

NM_000527.5:c.1580T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195798.2:c.1580T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195799.2:c.1457T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195800.2:c.1076T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001195803.2:c.1199T>C - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

no known functional consequence - Comment(s)

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000189570	Dept. of Genetics and Pharmacogenomics, Merck Research Labs	no classification provided (in vitro)	not provided	not applicable	in vitro	PubMed (1) [See all records that cite this PMID]
SCV001991509	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Aug 2, 2019)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000189570

Dept. of Genetics and Pharmacogenomics, Merck Research Labs

no classification provided

(in vitro)

not provided

not applicable

in vitro

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

SCV001991509

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Aug 2, 2019)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	not applicable	not applicable	not provided	not provided	not provided	not provided	not provided	in vitro

Citations

PubMed

Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Thormaehlen AS, Schuberth C, Won HH, Blattmann P, Joggerst-Thomalla B, Theiss S, Asselta R, Duga S, Merlini PA, Ardissino D, Lander ES, Gabriel S, Rader DJ, Peloso GM, Pepperkok R, Kathiresan S, Runz H.

PLoS Genet. 2015 Feb;11(2):e1004855. doi: 10.1371/journal.pgen.1004855. Erratum in: PLoS Genet. 2015 Mar 17;11(3):e1005060. doi: 10.1371/journal.pgen.1005060.

PubMed [citation]

PMID:: 25647241
PMCID:: PMC4409815

Details of each submission

From Dept. of Genetics and Pharmacogenomics, Merck Research Labs, SCV000189570.1

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

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

From GeneDx, SCV001991509.2

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 25647241)

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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