U.S. flag

An official website of the United States government

NM_000384.3(APOB):c.-115C>G AND Hypercholesterolemia, autosomal dominant, type B

Germline classification:
Likely benign (1 submission)
Last evaluated:
Apr 24, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001094609.4

Allele description [Variation Report for NM_000384.3(APOB):c.-115C>G]

NM_000384.3(APOB):c.-115C>G

Genes:
LOC106560211:APOB 5' regulatory region [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.-115C>G
HGVS:
  • NC_000002.12:g.21044060G>C
  • NG_011793.1:g.5014C>G
  • NG_042873.1:g.3073G>C
  • NM_000384.3:c.-115C>GMANE SELECT
  • NC_000002.11:g.21266932G>C
  • NM_000384.2:c.-115C>G
Links:
dbSNP: rs1800480
NCBI 1000 Genomes Browser:
rs1800480
Molecular consequence:
  • NM_000384.3:c.-115C>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Name:
Hypercholesterolemia, autosomal dominant, type B (FHCL2)
Synonyms:
APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE; APOLIPOPROTEIN B-100, FAMILIAL LIGAND-DEFECTIVE; HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007751; MedGen: C1704417; OMIM: 144010

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000427199Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Likely benign
(Apr 24, 2018) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.

Huijgen R, Sjouke B, Vis K, de Randamie JS, Defesche JC, Kastelein JJ, Hovingh GK, Fouchier SW.

Hum Mutat. 2012 Feb;33(2):448-55. doi: 10.1002/humu.21660. Epub 2011 Dec 22.

PubMed [citation]
PMID:
22095935

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000427199.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024