NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly) AND Familial hypercholesterolemia 1

Clinical significance:Conflicting interpretations of pathogenicity, Likely pathogenic(1);Uncertain significance(1) (Last evaluated: Mar 25, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000237371.2

Allele description [Variation Report for NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)]

NM_000527.5(LDLR):c.2099A>G (p.Asp700Gly)

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.2099A>G (p.Asp700Gly)
HGVS:
  • NC_000019.10:g.11120481A>G
  • NG_009060.1:g.36101A>G
  • NM_000527.4:c.2099A>G
  • NM_000527.5:c.2099A>GMANE SELECT
  • NM_001195798.2:c.2099A>G
  • NM_001195799.2:c.1976A>G
  • NM_001195800.2:c.1595A>G
  • NM_001195803.2:c.1606+248A>G
  • NP_000518.1:p.Asp700Gly
  • NP_000518.1:p.Asp700Gly
  • NP_001182727.1:p.Asp700Gly
  • NP_001182728.1:p.Asp659Gly
  • NP_001182729.1:p.Asp532Gly
  • LRG_274t1:c.2099A>G
  • LRG_274:g.36101A>G
  • NC_000019.9:g.11231157A>G
  • c.2099A>G
Protein change:
D532G
Links:
LDLR-LOVD, British Heart Foundation: LDLR_000966; dbSNP: rs879255139
NCBI 1000 Genomes Browser:
rs879255139
Molecular consequence:
  • NM_001195803.2:c.1606+248A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000527.4:c.2099A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.2099A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.2099A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1976A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1595A>G - 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
SCV000295873LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely pathogenic
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000606598Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrumno assertion criteria providedPathogenicgermlineresearch

SCV000607676Fundacion 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

Molecular genetics of familial hypercholesterolemia in Spain: Ten novel LDLR mutations and population analysis.

García-García AB, Real JT, Puig O, Cebolla E, Marín-García P, Martínez Ferrandis JI, García-Sogo M, Civera M, Ascaso JF, Carmena R, Armengod ME, Chaves FJ.

Hum Mutat. 2001 Nov;18(5):458-9.

PubMed [citation]
PMID:
11668640

Common mutations of familial hypercholesterolemia patients in Taiwan: characteristics and implications of migrations from southeast China.

Chiou KR, Charng MJ.

Gene. 2012 Apr 25;498(1):100-6. doi: 10.1016/j.gene.2012.01.092. Epub 2012 Feb 14.

PubMed [citation]
PMID:
22353362
See all PubMed Citations (3)

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295873.2

#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, SCV000606598.1

#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, SCV000607676.1

#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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