NM_000384.3(APOB):c.8148C>T (p.Ile2716=) AND not provided

Germline classification:: Benign (3 submissions)
Last evaluated:: Aug 1, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000759465.36

Allele description [Variation Report for NM_000384.3(APOB):c.8148C>T (p.Ile2716=)]

NM_000384.3(APOB):c.8148C>T (p.Ile2716=)

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.8148C>T (p.Ile2716=)

HGVS:

NC_000002.12:g.21008720G>A
NG_011793.1:g.40354C>T
NM_000384.3:c.8148C>TMANE SELECT
NP_000375.3:p.Ile2716=
NC_000002.11:g.21231592G>A
NM_000384.2:c.8148C>T

Links:

dbSNP: rs6413458

NCBI 1000 Genomes Browser:

rs6413458

Molecular consequence:

NM_000384.3:c.8148C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

130

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000888793	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (May 12, 2022)	unknown	clinical testing	PubMed (4) [See all records that cite these PMIDs] 33111339, 28475941, 22095935, 26467025
SCV001157159	ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	criteria provided, single submitter (ARUP Molecular Germline Variant Investigation Process 2024)	Benign (Nov 22, 2023)	germline	clinical testing	Citation Link,
SCV001250289	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Benign (Aug 1, 2024)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000888793

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Benign
(May 12, 2022)

unknown

clinical testing

PubMed (4)
[See all records that cite these PMIDs]

SCV001157159

ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

criteria provided, single submitter

(ARUP Molecular Germline Variant Investigation Process 2024)

Benign
(Nov 22, 2023)

germline

clinical testing

Citation Link,

SCV001250289

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Benign
(Aug 1, 2024)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	130	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Development of a new expanded next-generation sequencing panel for genetic diseases involved in dyslipidemia.

Marmontel O, Rollat-Farnier PA, Wozny AS, Charrière S, Vanhoye X, Simonet T, Chatron N, Collin-Chavagnac D, Nony S, Dumont S, Mahl M, Jacobs C, Janin A, Caussy C, Poinsot P, Tauveron I, Bardel C, Millat G, Peretti N, Moulin P, Marçais C, Di Filippo M.

Clin Genet. 2020 Dec;98(6):589-594. doi: 10.1111/cge.13832. Epub 2020 Sep 4.

PubMed [citation]

PMID:: 33111339

Mutational analysis and genotype-phenotype relation in familial hypercholesterolemia: The SAFEHEART registry.

Bourbon M, Alves AC, Alonso R, Mata N, Aguiar P, Padró T, Mata P.

Atherosclerosis. 2017 Jul;262:8-13. doi: 10.1016/j.atherosclerosis.2017.04.002. Epub 2017 Apr 6.

PubMed [citation]

PMID:: 28475941

See all PubMed Citations (4)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888793.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

#	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

From ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories, SCV001157159.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV001250289.25

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	130	not provided	not provided	clinical testing	not provided

Description

APOB: BP4, BP7, BS1, BS2

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		130	not provided	not provided	not provided

Last Updated: Oct 8, 2024

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