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NM_000527.5(LDLR):c.417C>G (p.Asp139Glu) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Mar 25, 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:
RCV000211617.7

Allele description [Variation Report for NM_000527.5(LDLR):c.417C>G (p.Asp139Glu)]

NM_000527.5(LDLR):c.417C>G (p.Asp139Glu)

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.417C>G (p.Asp139Glu)
HGVS:
  • NC_000019.10:g.11105323C>G
  • NG_009060.1:g.20943C>G
  • NM_000527.5:c.417C>GMANE SELECT
  • NM_001195798.2:c.417C>G
  • NM_001195799.2:c.294C>G
  • NM_001195800.2:c.314-2069C>G
  • NM_001195803.2:c.314-1242C>G
  • NP_000518.1:p.Asp139Glu
  • NP_000518.1:p.Asp139Glu
  • NP_001182727.1:p.Asp139Glu
  • NP_001182728.1:p.Asp98Glu
  • LRG_274t1:c.417C>G
  • LRG_274:g.20943C>G
  • LRG_274p1:p.Asp139Glu
  • NC_000019.9:g.11215999C>G
  • NM_000527.4:c.417C>G
  • c.417C>G
Protein change:
D139E
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001729; dbSNP: rs537484504
NCBI 1000 Genomes Browser:
rs537484504
Molecular consequence:
  • NM_001195800.2:c.314-2069C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1242C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.417C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.294C>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

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
SCV000268562Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital
no assertion criteria provided
Pathogenic
(Jul 9, 2008) 		germlineclinical testing

SCV000294697LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

(ACGS Guidelines, 2013)		Likely pathogenic
(Mar 25, 2016) 		germlineliterature only

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot provided1not providedclinical testing, literature only

Citations

PubMed

Genetic analysis of familial hypercholesterolaemia in Western Australia.

Hooper AJ, Nguyen LT, Burnett JR, Bates TR, Bell DA, Redgrave TG, Watts GF, van Bockxmeer FM.

Atherosclerosis. 2012 Oct;224(2):430-4. doi: 10.1016/j.atherosclerosis.2012.07.030. Epub 2012 Jul 27.

PubMed [citation]
PMID:
22883975

Details of each submission

From Cardiovascular Genetics Laboratory, PathWest Laboratory Medicine WA - Fiona Stanley Hospital, SCV000268562.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences

From LDLR-LOVD, British Heart Foundation, SCV000294697.2

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

Last Updated: Aug 5, 2023