NM_000384.3(APOB):c.8550T>G (p.Ile2850Met) AND Hypercholesterolemia, autosomal dominant, type B

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 27, 2017
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:: RCV001142146.12

Allele description [Variation Report for NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)]

NM_000384.3(APOB):c.8550T>G (p.Ile2850Met)

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.8550T>G (p.Ile2850Met)

HGVS:

NC_000002.12:g.21008318A>C
NG_011793.1:g.40756T>G
NM_000384.3:c.8550T>GMANE SELECT
NP_000375.3:p.Ile2850Met
NC_000002.11:g.21231190A>C
NM_000384.2:c.8550T>G

Protein change:

I2850M

Links:

dbSNP: rs148498577

NCBI 1000 Genomes Browser:

rs148498577

Molecular consequence:

NM_000384.3:c.8550T>G - missense variant - [Sequence Ontology: SO:0001583]

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

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succinate dehydrogenase [ubiquinone] flavoprotein subunit 1, mitochondrial [Dauc...
succinate dehydrogenase [ubiquinone] flavoprotein subunit 1, mitochondrial [Daucus carota subsp. sativus]
gi|1040903018|ref|XP_017259098.1|

Protein
Arabidopsis thaliana oligopeptide transporter 2 (OPT2), partial mRNA
Arabidopsis thaliana oligopeptide transporter 2 (OPT2), partial mRNA
gi|1063682091|ref|NM_100867.2|

Nucleotide
acetyl-coenzyme A synthetase [Synechococcus sp. CC9902]
acetyl-coenzyme A synthetase [Synechococcus sp. CC9902]
gi|78169185|gnl|jgi|Syncc9902_1318| B26282.1|

Protein
Hereditary hemochromatosis
Hereditary hemochromatosis

MedGen
C0392514[conceptid] (1)
MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001302556	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification Criteria 13 December 2019)	Uncertain significance (Apr 27, 2017)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 24503134, 19602640 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001302556

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)

Uncertain significance
(Apr 27, 2017)

germline

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias.

Johansen CT, Dubé JB, Loyzer MN, MacDonald A, Carter DE, McIntyre AD, Cao H, Wang J, Robinson JF, Hegele RA.

J Lipid Res. 2014 Apr;55(4):765-72. doi: 10.1194/jlr.D045963. Epub 2014 Feb 6.

PubMed [citation]

PMID:: 24503134
PMCID:: PMC3966710

The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.

Biesecker LG, Mullikin JC, Facio FM, Turner C, Cherukuri PF, Blakesley RW, Bouffard GG, Chines PS, Cruz P, Hansen NF, Teer JK, Maskeri B, Young AC; NISC Comparative Sequencing Program., Manolio TA, Wilson AF, Finkel T, Hwang P, Arai A, Remaley AT, Sachdev V, Shamburek R, et al.

Genome Res. 2009 Sep;19(9):1665-74. doi: 10.1101/gr.092841.109. Epub 2009 Jul 14.

PubMed [citation]

PMID:: 19602640
PMCID:: PMC2752125

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001302556.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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