NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly) AND Familial hypercholesterolemia 1

Clinical significance:Likely pathogenic (Last evaluated: Mar 25, 2016)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
4 submissions [Details]
Record status:
current
Accession:
RCV000238411.4

Allele description [Variation Report for NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)]

NM_000527.5(LDLR):c.1475A>G (p.Asp492Gly)

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.1475A>G (p.Asp492Gly)
HGVS:
  • NC_000019.10:g.11113651A>G
  • NG_009060.1:g.29271A>G
  • NM_000527.4:c.1475A>G
  • NM_000527.5:c.1475A>GMANE SELECT
  • NM_001195798.2:c.1475A>G
  • NM_001195799.2:c.1352A>G
  • NM_001195800.2:c.971A>G
  • NM_001195803.2:c.1094A>G
  • NP_000518.1:p.Asp492Gly
  • NP_000518.1:p.Asp492Gly
  • NP_001182727.1:p.Asp492Gly
  • NP_001182728.1:p.Asp451Gly
  • NP_001182729.1:p.Asp324Gly
  • NP_001182732.1:p.Asp365Gly
  • LRG_274t1:c.1475A>G
  • LRG_274:g.29271A>G
  • LRG_274p1:p.Asp492Gly
  • NC_000019.9:g.11224327A>G
  • c.1475A>G
Protein change:
D324G
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001056; dbSNP: rs879254918
NCBI 1000 Genomes Browser:
rs879254918
Molecular consequence:
  • NM_000527.4:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1475A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1352A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.971A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1094A>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
SCV000295460LDLR-LOVD, British Heart Foundationcriteria provided, single submitter
Likely pathogenic
(Mar 25, 2016)
germlineliterature only

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

Citation Link,

SCV000606440Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrumno assertion criteria providedPathogenicgermlineresearch

SCV000607603Fundacion Hipercolesterolemia Familiar - SAFEHEARTcriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germlineresearch

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

SCV000748097Iberoamerican FH Networkcriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germlineresearch

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

Description

Variant present in the database from Argentina

SCV000748097

Summary from all submissions

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

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From LDLR-LOVD, British Heart Foundation, SCV000295460.2

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

From Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum, SCV000606440.1

#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, SCV000607603.1

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

From Iberoamerican FH Network, SCV000748097.1

#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: Sep 25, 2021

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