NM_000527.5(LDLR):c.1802A>T (p.Asp601Val) 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:
2 submissions [Details]
Record status:
current
Accession:
RCV000237380.2

Allele description [Variation Report for NM_000527.5(LDLR):c.1802A>T (p.Asp601Val)]

NM_000527.5(LDLR):c.1802A>T (p.Asp601Val)

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.1802A>T (p.Asp601Val)
HGVS:
  • NC_000019.10:g.11116955A>T
  • NG_009060.1:g.32575A>T
  • NM_000527.4:c.1802A>T
  • NM_000527.5:c.1802A>TMANE SELECT
  • NM_001195798.2:c.1802A>T
  • NM_001195799.2:c.1679A>T
  • NM_001195800.2:c.1298A>T
  • NM_001195803.2:c.1421A>T
  • NP_000518.1:p.Asp601Val
  • NP_000518.1:p.Asp601Val
  • NP_001182727.1:p.Asp601Val
  • NP_001182728.1:p.Asp560Val
  • NP_001182729.1:p.Asp433Val
  • NP_001182732.1:p.Asp474Val
  • LRG_274t1:c.1802A>T
  • LRG_274:g.32575A>T
  • NC_000019.9:g.11227631A>T
  • c.1802A>T
Protein change:
D433V
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001525; dbSNP: rs879255027
NCBI 1000 Genomes Browser:
rs879255027
Molecular consequence:
  • NM_000527.4:c.1802A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.1802A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1802A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1679A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1298A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1421A>T - 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
SCV000295667LDLR-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,

SCV000322976Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorgecriteria provided, single submitter
Likely pathogenic
(Mar 1, 2016)
germlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedresearch, literature only

Citations

PubMed

Mutational analysis of a cohort with clinical diagnosis of familial hypercholesterolemia: considerations for genetic diagnosis improvement.

Medeiros AM, Alves AC, Bourbon M.

Genet Med. 2016 Apr;18(4):316-24. doi: 10.1038/gim.2015.71. Epub 2015 May 28.

PubMed [citation]
PMID:
26020417

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, SCV000295667.2

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

From Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge, SCV000322976.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
2not providednot providednot providednot providedresearch PubMed (1)

Description

Heterologous cells (CHO), FACS assays

Description

0/220 non-FH alleles

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided
2germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 29, 2020

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