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

Clinical significance:Uncertain significance (Last evaluated: Dec 3, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000775217.2

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 (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
SCV000909461Color Health, Inccriteria provided, single submitter
Uncertain significance
(Dec 3, 2018)
germlineclinical testing

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

Description

Variant of Uncertain Significance based on current evidence: This missense variant (also known as p.Val835Ala in the mature protein) is located in the beta alpha 1 domain of the APOB protein. Computational prediction tools and conservation analyses are inconclusive regarding the impact of this variant on the protein function. Computational splicing tools suggest that this variant may not impact RNA splicing. To our knowledge, functional assays have not been performed for this variant. This variant was reported in a family affected with premature myocardial infarction but it did not segregate with elevated LDL-C levels (PMID: 26036859). This variant has been identified in 4/246152 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

SCV000909461

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

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 Color Health, Inc, SCV000909461.2

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

Last Updated: Jun 2, 2021

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