NM_000384.3(APOB):c.7331G>A (p.Arg2444His) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(1);Uncertain significance(1) (Last evaluated: May 1, 2021)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV001284267.3

Allele description [Variation Report for NM_000384.3(APOB):c.7331G>A (p.Arg2444His)]

NM_000384.3(APOB):c.7331G>A (p.Arg2444His)

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.7331G>A (p.Arg2444His)
HGVS:
  • NC_000002.12:g.21009537C>T
  • NG_011793.1:g.39537G>A
  • NM_000384.3:c.7331G>AMANE SELECT
  • NP_000375.3:p.Arg2444His
  • NC_000002.11:g.21232409C>T
  • NM_000384.2:c.7331G>A
Protein change:
R2444H
Links:
dbSNP: rs200143030
NCBI 1000 Genomes Browser:
rs200143030
Molecular consequence:
  • NM_000384.3:c.7331G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
2

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001469950Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely benign
(Nov 20, 2019)
unknownclinical testing

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

SCV001501764CeGaT Praxis fuer Humangenetik Tuebingencriteria provided, single submitter
Uncertain significance
(May 1, 2021)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes2not providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.

Cao YX, Wu NQ, Sun D, Liu HH, Jin JL, Li S, Guo YL, Zhu CG, Gao Y, Dong QT, Liu G, Dong Q, Li JJ.

J Transl Med. 2018 Dec 10;16(1):345. doi: 10.1186/s12967-018-1737-7.

PubMed [citation]
PMID:
30526649
PMCID:
PMC6288904

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders.

Karbassi I, Maston GA, Love A, DiVincenzo C, Braastad CD, Elzinga CD, Bright AR, Previte D, Zhang K, Rowland CM, McCarthy M, Lapierre JL, Dubois F, Medeiros KA, Batish SD, Jones J, Liaquat K, Hoffman CA, Jaremko M, Wang Z, Sun W, Buller-Burckle A, et al.

Hum Mutat. 2016 Jan;37(1):127-34. doi: 10.1002/humu.22918. Epub 2015 Oct 29.

PubMed [citation]
PMID:
26467025
PMCID:
PMC4737317

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001469950.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Praxis fuer Humangenetik Tuebingen, SCV001501764.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided2not providednot providednot provided

Last Updated: Jul 10, 2021

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