NM_000384.3(APOB):c.2585T>C (p.Val862Ala) AND Familial hypercholesterolemia 1

Clinical significance:Likely benign

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000172972.3

Allele description [Variation Report for NM_000384.3(APOB):c.2585T>C (p.Val862Ala)]

NM_000384.3(APOB):c.2585T>C (p.Val862Ala)

Gene:
APOB:apolipoprotein B [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p24.1
Genomic location:
Preferred name:
NM_000384.3(APOB):c.2585T>C (p.Val862Ala)
HGVS:
  • NC_000002.12:g.21023544A>G
  • NG_011793.1:g.25530T>C
  • NM_000384.3:c.2585T>CMANE SELECT
  • NP_000375.3:p.Val862Ala
  • NC_000002.11:g.21246416A>G
  • NM_000384.2:c.2585T>C
Protein change:
V862A
Links:
dbSNP: rs145142090
NCBI 1000 Genomes Browser:
rs145142090
Molecular consequence:
  • NM_000384.3:c.2585T>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
SCV000212150Institute for Integrative and Experimental Genomics,University of Luebeckcriteria provided, single submitter
Likely benigngermlineresearch

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenonot provided1not providednot providednot providedresearch

Citations

PubMed

Systematic analysis of variants related to familial hypercholesterolemia in families with premature myocardial infarction.

Brænne I, Kleinecke M, Reiz B, Graf E, Strom T, Wieland T, Fischer M, Kessler T, Hengstenberg C, Meitinger T, Erdmann J, Schunkert H.

Eur J Hum Genet. 2016 Feb;24(2):191-7. doi: 10.1038/ejhg.2015.100. Epub 2015 Jun 3.

PubMed [citation]
PMID:
26036859
PMCID:
PMC4717192

Details of each submission

From Institute for Integrative and Experimental Genomics,University of Luebeck, SCV000212150.1

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

Last Updated: Jun 2, 2021

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