NM_000527.5(LDLR):c.889A>C (p.Asn297His) AND Familial hypercholesterolemia 1

Clinical significance:Uncertain significance (Last evaluated: Mar 25, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000238042.2

Allele description [Variation Report for NM_000527.5(LDLR):c.889A>C (p.Asn297His)]

NM_000527.5(LDLR):c.889A>C (p.Asn297His)

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.889A>C (p.Asn297His)
HGVS:
  • NC_000019.10:g.11107463A>C
  • NG_009060.1:g.23083A>C
  • NM_000527.4:c.889A>C
  • NM_000527.5:c.889A>CMANE SELECT
  • NM_001195798.2:c.889A>C
  • NM_001195799.2:c.766A>C
  • NM_001195800.2:c.385A>C
  • NM_001195803.2:c.508A>C
  • NP_000518.1:p.Asn297His
  • NP_000518.1:p.Asn297His
  • NP_001182727.1:p.Asn297His
  • NP_001182728.1:p.Asn256His
  • NP_001182729.1:p.Asn129His
  • NP_001182732.1:p.Asn170His
  • LRG_274t1:c.889A>C
  • LRG_274:g.23083A>C
  • NC_000019.9:g.11218139A>C
  • c.889A>C
Protein change:
N129H
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001048; dbSNP: rs879254709
NCBI 1000 Genomes Browser:
rs879254709
Molecular consequence:
  • NM_000527.4:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.889A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.766A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.385A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.508A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypercholesterolemia 1 (FHCL1)
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000295032LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Uncertain significance
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000606260Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrumno assertion criteria providedPathogenicgermlineresearch

SCV000607513Fundacion Hipercolesterolemia Familiar - SAFEHEARTcriteria provided, single submitter
Uncertain significance
(Mar 1, 2016)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot provided2not providedliterature only
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Update of the molecular basis of familial hypercholesterolemia in The Netherlands.

Fouchier SW, Kastelein JJ, Defesche JC.

Hum Mutat. 2005 Dec;26(6):550-6.

PubMed [citation]
PMID:
16250003

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform.

Alonso R, Defesche JC, Tejedor D, Castillo S, Stef M, Mata N, Gomez-Enterria P, Martinez-Faedo C, Forga L, Mata P.

Clin Biochem. 2009 Jun;42(9):899-903. doi: 10.1016/j.clinbiochem.2009.01.017. Epub 2009 Feb 6.

PubMed [citation]
PMID:
19318025
See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295032.2

#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 Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum, SCV000606260.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Fundacion Hipercolesterolemia Familiar - SAFEHEART, SCV000607513.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 29, 2020

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