NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) AND not provided

Clinical significance:Likely pathogenic (Last evaluated: Oct 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000161998.7

Allele description [Variation Report for NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)]

NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys)

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.1720C>T (p.Arg574Cys)
HGVS:
  • NC_000019.10:g.11116873C>T
  • NG_009060.1:g.32493C>T
  • NM_000527.4:c.1720C>T
  • NM_000527.5:c.1720C>TMANE SELECT
  • NM_001195798.2:c.1720C>T
  • NM_001195799.2:c.1597C>T
  • NM_001195800.2:c.1216C>T
  • NM_001195803.2:c.1339C>T
  • NP_000518.1:p.Arg574Cys
  • NP_000518.1:p.Arg574Cys
  • NP_001182727.1:p.Arg574Cys
  • NP_001182728.1:p.Arg533Cys
  • NP_001182729.1:p.Arg406Cys
  • NP_001182732.1:p.Arg447Cys
  • LRG_274t1:c.1720C>T
  • LRG_274:g.32493C>T
  • NC_000019.9:g.11227549C>T
  • NM_000527.4(LDLR):c.1720C>T
  • P01130:p.Arg574Cys
  • c.1720C>T
  • p.(Arg574Cys)
Protein change:
R406C
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000232; UniProtKB: P01130#VAR_072851; dbSNP: rs185098634
NCBI 1000 Genomes Browser:
rs185098634
Molecular consequence:
  • NM_000527.4:c.1720C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.1720C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1720C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1597C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1216C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1339C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
no known functional consequence - Comment(s)
Observations:
1

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000189573Dept. of Genetics and Pharmacogenomics, Merck Research Labs

See additional submitters

no assertion provided
    not providednot applicablein vitro

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

    SCV001151665CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
    Likely pathogenic
    (Oct 1, 2018)
    germlineclinical testing

    Citation Link

    Description

    In vitro functional profiling of LDL-receptor missense alleles identified through large-scale association testing

    SCV000189573

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlineyes1not providednot providednot providednot providedclinical testing
    not providednot applicablenot applicablenot providednot providednot providednot providednot providedin 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;11(3):e1005060.

    PubMed [citation]
    PMID:
    25647241
    PMCID:
    PMC4409815

    Details of each submission

    From Dept. of Genetics and Pharmacogenomics, Merck Research Labs, SCV000189573.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedin vitro PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1not applicablenot applicablenot providednot providednot providednot providednot providednot providednot provided

    From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001151665.7

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not provided1not providednot providedclinical testingnot provided
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineyesnot providednot providednot provided1not providednot providednot provided

    Last Updated: Nov 27, 2021

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