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NM_000384.3(APOB):c.2604+1G>A AND Familial hypobetalipoproteinemia 1

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 1, 2018
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001027455.10

Allele description [Variation Report for NM_000384.3(APOB):c.2604+1G>A]

NM_000384.3(APOB):c.2604+1G>A

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.2604+1G>A
HGVS:
  • NC_000002.12:g.21023524C>T
  • NG_011793.1:g.25550G>A
  • NG_011793.2:g.25549G>A
  • NM_000384.3:c.2604+1G>AMANE SELECT
  • NC_000002.11:g.21246396C>T
  • NM_000384.2:c.2604+1G>A
Links:
dbSNP: rs775345377
NCBI 1000 Genomes Browser:
rs775345377
Molecular consequence:
  • NM_000384.3:c.2604+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]

Condition(s)

Name:
Familial hypobetalipoproteinemia 1
Synonyms:
Hypobetalipoproteinemia, normotriglyceridemic; Acanthocytosis with hypobetalipoproteinemia
Identifiers:
MONDO: MONDO:0014252; MedGen: C4551990; OMIM: 615558

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001190023Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan
no assertion criteria provided
Likely pathogenic
(Dec 1, 2018) 		germlinecase-control

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
European Caucasoidgermlineyes1not providednot providednot providednot providedcase-control

Citations

PubMed

Rare Pathogenic Variants Predispose to Hepatocellular Carcinoma in Nonalcoholic Fatty Liver Disease.

Pelusi S, Baselli G, Pietrelli A, Dongiovanni P, Donati B, McCain MV, Meroni M, Fracanzani AL, Romagnoli R, Petta S, Grieco A, Miele L, Soardo G, Bugianesi E, Fargion S, Aghemo A, D'Ambrosio R, Xing C, Romeo S, De Francesco R, Reeves HL, Valenti LVC.

Sci Rep. 2019 Mar 6;9(1):3682. doi: 10.1038/s41598-019-39998-2.

PubMed [citation]
PMID:
30842500
PMCID:
PMC6403344

Details of each submission

From Metabolic Liver Diseases Lab, Fondazione IRCCS Ca Granda Policlinico, University of Milan, SCV001190023.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1European Caucasoid1not providednot providedcase-control PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Oct 13, 2024