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NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del) AND Hypercholesterolemia, familial, 1

Germline classification:
Likely pathogenic (2 submissions)
Last evaluated:
Mar 25, 2016
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV000237267.5

Allele description [Variation Report for NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del)]

NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del)

Gene:
LDLR:low density lipoprotein receptor [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
19p13.2
Genomic location:
Preferred name:
NM_000527.5(LDLR):c.168TGA[1] (p.Asp57del)
HGVS:
  • NC_000019.10:g.11100323TGA[1]
  • NC_000019.9:g.11210999_11211001del
  • NG_009060.1:g.15943TGA[1]
  • NM_000527.4:c.171_173del
  • NM_000527.5:c.168TGA[1]MANE SELECT
  • NM_001195798.2:c.168TGA[1]
  • NM_001195799.2:c.168TGA[1]
  • NM_001195800.2:c.168TGA[1]
  • NM_001195803.2:c.168TGA[1]
  • NP_000518.1:p.Asp57del
  • NP_001182727.1:p.Asp57del
  • NP_001182728.1:p.Asp57del
  • NP_001182729.1:p.Asp57del
  • NP_001182732.1:p.Asp57del
  • LRG_274t1:c.171_173del
  • LRG_274:g.15943TGA[1]
  • NC_000019.9:g.11210999TGA[1]
  • NC_000019.9:g.11210999_11211001del
  • NC_000019.9:g.11211002_11211004delTGA
  • NM_000527.4:c.171_173delTGA
  • NP_000518.1:p.D57del
  • c.171_173delTGA
Protein change:
D57del
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000921; dbSNP: rs879254421
NCBI 1000 Genomes Browser:
rs879254421
Molecular consequence:
  • NM_000527.5:c.168TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001195798.2:c.168TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001195799.2:c.168TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001195800.2:c.168TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001195803.2:c.168TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
Observations:
3

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
SCV000294492LDLR-LOVD, British Heart Foundation
criteria provided, single submitter

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

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

Citation Link,

SCV000484811Robarts Research Institute, Western University
criteria provided, single submitter

(Wang et al. (Arterioscler Thromb Vasc Biol. 2016))		Likely pathogenicgermlineclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes3not providednot provided2not providedclinical testing, literature only

Citations

PubMed

Low density lipoprotein receptor (LDLR) gene mutations in Canadian subjects with familial hypercholesterolemia, but not of French descent.

Wang J, Huff E, Janecka L, Hegele RA.

Hum Mutat. 2001 Oct;18(4):359.

PubMed [citation]
PMID:
11668627

Mutational analysis in UK patients with a clinical diagnosis of familial hypercholesterolaemia: relationship with plasma lipid traits, heart disease risk and utility in relative tracing.

Humphries SE, Cranston T, Allen M, Middleton-Price H, Fernandez MC, Senior V, Hawe E, Iversen A, Wray R, Crook MA, Wierzbicki AS.

J Mol Med (Berl). 2006 Mar;84(3):203-14. Epub 2005 Dec 31.

PubMed [citation]
PMID:
16389549
See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294492.2

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

From Robarts Research Institute, Western University, SCV000484811.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024