NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr) AND not provided

Germline classification:: Benign (1 submission)
Last evaluated:: May 23, 2022
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:: RCV003477497.1

Allele description [Variation Report for NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)]

NM_000384.3(APOB):c.13441G>A (p.Ala4481Thr)

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.13441G>A (p.Ala4481Thr)

HGVS:

NC_000002.12:g.21001981C>T
NG_011793.1:g.47093G>A
NM_000384.3:c.13441G>AMANE SELECT
NP_000375.3:p.Ala4481Thr
NC_000002.11:g.21224853C>T
NM_000384.2:c.13441G>A

Protein change:

A4481T

Links:

Molecular consequence:

NM_000384.3:c.13441G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000888780	Quest Diagnostics Nichols Institute San Juan Capistrano	criteria provided, single submitter (Quest Diagnostics criteria)	Benign (May 23, 2022)	unknown	clinical testing	PubMed (7) [See all records that cite these PMIDs] 21303902, 24503134, 27153395, 21408211, 33006316, 22095935, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000888780

Quest Diagnostics Nichols Institute San Juan Capistrano

criteria provided, single submitter

(Quest Diagnostics criteria)

Benign
(May 23, 2022)

unknown

clinical testing

PubMed (7)
[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

Dense genotyping of candidate gene loci identifies variants associated with high-density lipoprotein cholesterol.

Edmondson AC, Braund PS, Stylianou IM, Khera AV, Nelson CP, Wolfe ML, Derohannessian SL, Keating BJ, Qu L, He J, Tobin MD, Tomaszewski M, Baumert J, Klopp N, Döring A, Thorand B, Li M, Reilly MP, Koenig W, Samani NJ, Rader DJ.

Circ Cardiovasc Genet. 2011 Apr;4(2):145-55. doi: 10.1161/CIRCGENETICS.110.957563. Epub 2011 Feb 8.

PubMed [citation]

PMID:: 21303902
PMCID:: PMC3319351

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

See all PubMed Citations (7)

Details of each submission

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV000888780.4

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (7)

#	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: Nov 24, 2024

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