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NM_000527.5(LDLR):c.355G>A (p.Gly119Arg) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 3, 2016
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:
RCV000210835.1

Allele description [Variation Report for NM_000527.5(LDLR):c.355G>A (p.Gly119Arg)]

NM_000527.5(LDLR):c.355G>A (p.Gly119Arg)

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.355G>A (p.Gly119Arg)
HGVS:
  • NC_000019.10:g.11105261G>A
  • NG_009060.1:g.20881G>A
  • NM_000527.5:c.355G>AMANE SELECT
  • NM_001195798.2:c.355G>A
  • NM_001195799.2:c.232G>A
  • NM_001195800.2:c.314-2131G>A
  • NM_001195803.2:c.314-1304G>A
  • NP_000518.1:p.Gly119Arg
  • NP_000518.1:p.Gly119Arg
  • NP_001182727.1:p.Gly119Arg
  • NP_001182728.1:p.Gly78Arg
  • LRG_274t1:c.355G>A
  • LRG_274:g.20881G>A
  • LRG_274p1:p.Gly119Arg
  • NC_000019.9:g.11215937G>A
  • NM_000527.4:c.355G>A
Protein change:
G119R
Links:
dbSNP: rs869320648
NCBI 1000 Genomes Browser:
rs869320648
Molecular consequence:
  • NM_001195800.2:c.314-2131G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1304G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.355G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.232G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000267116SNPedia
criteria provided, single submitter

(Khera et al. (J Am Coll Cardiol 2016))		Likely pathogenic
(Apr 3, 2016) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.

Khera AV, Won HH, Peloso GM, Lawson KS, Bartz TM, Deng X, van Leeuwen EM, Natarajan P, Emdin CA, Bick AG, Morrison AC, Brody JA, Gupta N, Nomura A, Kessler T, Duga S, Bis JC, van Duijn CM, Cupples LA, Psaty B, Rader DJ, Danesh J, et al.

J Am Coll Cardiol. 2016 Jun 7;67(22):2578-89. doi: 10.1016/j.jacc.2016.03.520. Epub 2016 Apr 3.

PubMed [citation]
PMID:
27050191
PMCID:
PMC5405769

Details of each submission

From SNPedia, SCV000267116.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024