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NM_004631.5(LRP8):c.2855G>A (p.Arg952Gln) AND Myocardial infarction, susceptibility to, 1

Germline classification:
risk factor (1 submission)
Last evaluated:
Oct 1, 2007
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000007411.2

Allele description [Variation Report for NM_004631.5(LRP8):c.2855G>A (p.Arg952Gln)]

NM_004631.5(LRP8):c.2855G>A (p.Arg952Gln)

Gene:
LRP8:LDL receptor related protein 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_004631.5(LRP8):c.2855G>A (p.Arg952Gln)
HGVS:
  • NC_000001.11:g.53247055C>T
  • NG_011517.2:g.86095G>A
  • NM_001018054.3:c.2678G>A
  • NM_004631.5:c.2855G>AMANE SELECT
  • NM_017522.5:c.2066G>A
  • NM_033300.4:c.2345G>A
  • NP_001018064.1:p.Arg893Gln
  • NP_004622.2:p.Arg952Gln
  • NP_059992.3:p.Arg689Gln
  • NP_150643.2:p.Arg782Gln
  • NC_000001.10:g.53712727C>T
  • Q14114:p.Arg952Gln
Protein change:
R689Q; ARG952GLN
Links:
UniProtKB: Q14114#VAR_018469; OMIM: 602600.0001; dbSNP: rs5174
NCBI 1000 Genomes Browser:
rs5174
Molecular consequence:
  • NM_001018054.3:c.2678G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004631.5:c.2855G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017522.5:c.2066G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_033300.4:c.2345G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Myocardial infarction, susceptibility to, 1 (MCI1)
Synonyms:
Myocardial infarction 1
Identifiers:
MedGen: C1838021

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000027611OMIM
no assertion criteria provided
risk factor
(Oct 1, 2007) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

An LRP8 variant is associated with familial and premature coronary artery disease and myocardial infarction.

Shen GQ, Li L, Girelli D, Seidelmann SB, Rao S, Fan C, Park JE, Xi Q, Li J, Hu Y, Olivieri O, Marchant K, Barnard J, Corrocher R, Elston R, Cassano J, Henderson S, Hazen SL, Plow EF, Topol EJ, Wang QK.

Am J Hum Genet. 2007 Oct;81(4):780-91. Epub 2007 Aug 31.

PubMed [citation]
PMID:
17847002
PMCID:
PMC2227927

Details of each submission

From OMIM, SCV000027611.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

Shen et al. (2007) identified association of an arg952-to-gln (R952Q) missense change in LRP8 with susceptibility to premature coronary artery disease and/or myocardial infarction (MCI1; 608446). Transfection assays showed that the R952Q variant of LRP8 increased activation of p38 mitogen-activated protein kinase (600289) by oxidized low density lipoprotein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 23, 2024