NM_000527.5(LDLR):c.980A>C (p.His327Pro) AND Familial hypercholesterolemia 1

Clinical significance:Likely pathogenic (Last evaluated: Dec 7, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001255944.1

Allele description [Variation Report for NM_000527.5(LDLR):c.980A>C (p.His327Pro)]

NM_000527.5(LDLR):c.980A>C (p.His327Pro)

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.980A>C (p.His327Pro)
HGVS:
  • NC_000019.10:g.11110691A>C
  • NG_009060.1:g.26311A>C
  • NM_000527.5:c.980A>CMANE SELECT
  • NM_001195798.2:c.980A>C
  • NM_001195799.2:c.857A>C
  • NM_001195800.2:c.476A>C
  • NM_001195803.2:c.599A>C
  • NP_000518.1:p.His327Pro
  • NP_001182727.1:p.His327Pro
  • NP_001182728.1:p.His286Pro
  • NP_001182729.1:p.His159Pro
  • NP_001182732.1:p.His200Pro
  • LRG_274t1:c.980A>C
  • LRG_274:g.26311A>C
  • NC_000019.9:g.11221367A>C
  • NM_000527.4:c.980A>C
Protein change:
H159P
Links:
dbSNP: rs2077361686
NCBI 1000 Genomes Browser:
rs2077361686
Molecular consequence:
  • NM_000527.5:c.980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.980A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.857A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.476A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.599A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypercholesterolemia 1 (FHCL1)
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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001432621Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbiacriteria provided, single submitter
Likely pathogenic
(Dec 7, 2018)
germlineresearch

PubMed (2)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedresearch

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Risk of Premature Atherosclerotic Disease in Patients With Monogenic Versus Polygenic Familial Hypercholesterolemia.

Trinder M, Li X, DeCastro ML, Cermakova L, Sadananda S, Jackson LM, Azizi H, Mancini GBJ, Francis GA, Frohlich J, Brunham LR.

J Am Coll Cardiol. 2019 Jul 30;74(4):512-522. doi: 10.1016/j.jacc.2019.05.043.

PubMed [citation]
PMID:
31345425

Details of each submission

From Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia, SCV001432621.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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