U.S. flag

An official website of the United States government

NM_000527.5(LDLR):c.514G>C (p.Asp172His) 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:
RCV000237481.2

Allele description [Variation Report for NM_000527.5(LDLR):c.514G>C (p.Asp172His)]

NM_000527.5(LDLR):c.514G>C (p.Asp172His)

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.514G>C (p.Asp172His)
Other names:
FH Swazi
HGVS:
  • NC_000019.10:g.11105420G>C
  • NG_009060.1:g.21040G>C
  • NM_000527.5:c.514G>CMANE SELECT
  • NM_001195798.2:c.514G>C
  • NM_001195799.2:c.391G>C
  • NM_001195800.2:c.314-1972G>C
  • NM_001195803.2:c.314-1145G>C
  • NP_000518.1:p.Asp172His
  • NP_001182727.1:p.Asp172His
  • NP_001182728.1:p.Asp131His
  • LRG_274t1:c.514G>C
  • LRG_274:g.21040G>C
  • NC_000019.9:g.11216096G>C
  • NM_000527.4:c.514G>C
  • P01130:p.Asp172His
  • c.514G>C
Protein change:
D131H
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000701; UniProtKB: P01130#VAR_013950; dbSNP: rs879254554
NCBI 1000 Genomes Browser:
rs879254554
Molecular consequence:
  • NM_001195800.2:c.314-1972G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001195803.2:c.314-1145G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.5:c.514G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.514G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.391G>C - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000294757LDLR-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,

SCV001467721Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences
no assertion criteria provided
Pathogenicsomaticresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedliterature only
not providedsomaticyes1not providednot providednot providednot providedresearch

Citations

PubMed

Predominance of a 6 bp deletion in exon 2 of the LDL receptor gene in Africans with familial hypercholesterolaemia.

Thiart R, Scholtz CL, Vergotine J, Hoogendijk CF, de Villiers JN, Nissen H, Brusgaard K, Gaffney D, Hoffs MS, Vermaak WJ, Kotze MJ.

J Med Genet. 2000 Jul;37(7):514-9.

PubMed [citation]
PMID:
10882754
PMCID:
PMC1734636

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000294757.2

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

From Rajaie Cardiovascular, Medical and Research Center, Iran University of Medical Sciences, SCV001467721.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Sep 29, 2024