NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro) AND Familial hypercholesterolemia

Clinical significance:Uncertain significance

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001293734.1

Allele description [Variation Report for NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro)]

NM_000527.5(LDLR):c.1750T>C (p.Ser584Pro)

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.1750T>C (p.Ser584Pro)
HGVS:
  • NC_000019.10:g.11116903T>C
  • NG_009060.1:g.32523T>C
  • NM_000527.4:c.1750T>C
  • NM_000527.5:c.1750T>CMANE SELECT
  • NM_001195798.2:c.1750T>C
  • NM_001195799.2:c.1627T>C
  • NM_001195800.2:c.1246T>C
  • NM_001195803.2:c.1369T>C
  • NP_000518.1:p.Ser584Pro
  • NP_000518.1:p.Ser584Pro
  • NP_001182727.1:p.Ser584Pro
  • NP_001182728.1:p.Ser543Pro
  • NP_001182729.1:p.Ser416Pro
  • NP_001182732.1:p.Ser457Pro
  • LRG_274t1:c.1750T>C
  • LRG_274:g.32523T>C
  • LRG_274p1:p.Ser584Pro
  • NC_000019.9:g.11227579T>C
  • c.1750T>C
Protein change:
S416P
Links:
LDLR-LOVD, British Heart Foundation: LDLR_001519; dbSNP: rs879255010
NCBI 1000 Genomes Browser:
rs879255010
Molecular consequence:
  • NM_000527.4:c.1750T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000527.5:c.1750T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195798.2:c.1750T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195799.2:c.1627T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195800.2:c.1246T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001195803.2:c.1369T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Familial hypercholesterolemia (FH)
Identifiers:
MONDO: MONDO:0005439; MedGen: C0020445; OMIM: PS143890

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001482444Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicinecriteria provided, single submitter
Uncertain significancegermlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot provided1not providedresearch

Citations

PubMed

Analysis of publicly available LDLR, APOB, and PCSK9 variants associated with familial hypercholesterolemia: application of ACMG guidelines and implications for familial hypercholesterolemia diagnosis.

Chora JR, Medeiros AM, Alves AC, Bourbon M.

Genet Med. 2018 Jun;20(6):591-598. doi: 10.1038/gim.2017.151. Epub 2017 Oct 26.

PubMed [citation]
PMID:
29261184

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 Laboratory of Molecular Genetics,National Medical Research Center for Therapy and Preventive Medicine, SCV001482444.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearch PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Apr 12, 2021

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