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NM_000527.5(LDLR):c.516C>G (p.Asp172Glu) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (1 submission)
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:
RCV000238094.1

Allele description [Variation Report for NM_000527.5(LDLR):c.516C>G (p.Asp172Glu)]

NM_000527.5(LDLR):c.516C>G (p.Asp172Glu)

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.516C>G (p.Asp172Glu)
HGVS:
  • NC_000019.10:g.11105422C>G
  • NG_009060.1:g.21042C>G
  • NM_000527.5:c.516C>GMANE SELECT
  • NM_001195798.2:c.516C>G
  • NM_001195799.2:c.393C>G
  • NM_001195800.2:c.314-1970C>G
  • NM_001195803.2:c.314-1143C>G
  • NP_000518.1:p.Asp172Glu
  • NP_001182727.1:p.Asp172Glu
  • NP_001182728.1:p.Asp131Glu
  • LRG_274t1:c.516C>G
  • LRG_274:g.21042C>G
  • NC_000019.9:g.11216098C>G
  • NM_000527.4:c.516C>G
  • c.516C>G
Protein change:
D131E
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000070; dbSNP: rs879254557
NCBI 1000 Genomes Browser:
rs879254557
Molecular consequence:
  • NM_001195800.2:c.314-1970C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1143C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.516C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.516C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.393C>G - 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
SCV000294761LDLR-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 providedgermlineyes1not providednot provided1not providedliterature only

Citations

PubMed

Detection of mutations and large rearrangements of the low-density lipoprotein receptor gene in Taiwanese patients with familial hypercholesterolemia.

Chiou KR, Charng MJ.

Am J Cardiol. 2010 Jun 15;105(12):1752-8. doi: 10.1016/j.amjcard.2010.01.356. Epub 2010 May 4.

PubMed [citation]
PMID:
20538126

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294761.2

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

Last Updated: May 1, 2024