NM_000384.3(APOB):c.10700C>T (p.Thr3567Met) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 29, 2023
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:: RCV003478083.1

Allele description [Variation Report for NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)]

NM_000384.3(APOB):c.10700C>T (p.Thr3567Met)

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.10700C>T (p.Thr3567Met)

HGVS:

NC_000002.12:g.21006168G>A
NG_011793.1:g.42906C>T
NM_000384.3:c.10700C>TMANE SELECT
NP_000375.3:p.Thr3567Met
NC_000002.11:g.21229040G>A
NM_000384.2:c.10700C>T

Protein change:

T3567M

Links:

dbSNP: rs368278927

NCBI 1000 Genomes Browser:

rs368278927

Molecular consequence:

NM_000384.3:c.10700C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004220726	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Uncertain significance (Aug 29, 2023)	unknown	clinical testing	PubMed (9) [See all records that cite these PMIDs] 34428338, 17964958, 18325181, 27153395, 31589614, 35979295, 23775634, 36071769, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004220726

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Uncertain significance
(Aug 29, 2023)

unknown

clinical testing

PubMed (9)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Actionable genomic variants in 6045 participants from the Qatar Genome Program.

Elfatih A, Mifsud B, Syed N, Badii R, Mbarek H, Abbaszadeh F; Qatar Genome Program Research Consortium, Estivill X.

Hum Mutat. 2021 Aug 24. doi: 10.1002/humu.24278. [Epub ahead of print]

PubMed [citation]

PMID:: 34428338

LDLR and ApoB are major genetic causes of autosomal dominant hypercholesterolemia in a Taiwanese population.

Yang KC, Su YN, Shew JY, Yang KY, Tseng WK, Wu CC, Lee YT.

J Formos Med Assoc. 2007 Oct;106(10):799-807.

PubMed [citation]

PMID:: 17964958

See all PubMed Citations (9)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV004220726.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (9)

Description

In the published literature, this variant has been reported in individuals and families affected by hypercholesterolemia (PMIDs: 17964958 (2007), 18325181 (2008), 23775634 (2013), 34428338 (2021)) as well as cardiac disease (PMIDs: 34573395 (2021), 35979295 (2022)). The frequency of this variant in the general population, 0.00015 (3/19940 chromosomes (Genome Aggregation Database, http://gnomad.broadinstitute.org)), is uninformative in the assessment of its pathogenicity. Analysis of this variant using bioinformatics tools for the prediction of the effect of amino acid changes on protein structure and function yielded conflicting predictions that this variant is deleterious or benign. Based on the available information, we are unable to determine the clinical significance of this variant.

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

Last Updated: Mar 11, 2025

ClinVar

Relating variation to medicine