NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del) AND Cardiovascular phenotype

Germline classification:: Benign (1 submission)
Last evaluated:: May 9, 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:: RCV002362835.9

Allele description [Variation Report for NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)]

NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)

Gene:

APOB:apolipoprotein B [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

2p24.1

Genomic location:

Preferred name:

NM_000384.3(APOB):c.6636TGA[1] (p.Asp2213del)

HGVS:

NC_000002.11:g.21233099_21233101del
NC_000002.12:g.21010227TCA[1]
NG_011793.1:g.38842TGA[1]
NM_000384.3:c.6636TGA[1]MANE SELECT
NP_000375.3:p.Asp2213del
NC_000002.11:g.21233099TCA[1]
NC_000002.11:g.21233099_21233101del
NC_000002.11:g.21233099_21233101delTCA
NC_000002.11:g.21233102_21233104del
NM_000384.2:c.6639_6641delTGA
p.D2213del

Protein change:

D2213del

Links:

dbSNP: rs541497967

NCBI 1000 Genomes Browser:

rs541497967

Molecular consequence:

NM_000384.3:c.6636TGA[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

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tether containing UBX domain for GLUT4 isoform 2 [Mus musculus]
tether containing UBX domain for GLUT4 isoform 2 [Mus musculus]
gi|38016200|ref|NP_937866.1|

Protein
Homologene neighbors for GEO Profiles (Select 7088274) (0)
GEO Profiles
DUSP14 dual specificity phosphatase 14 [Homo sapiens]
DUSP14 dual specificity phosphatase 14 [Homo sapiens]
Gene ID:11072

Gene
Gene Links for GEO Profiles (Select 7089184) (1)
Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002662183	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Benign (May 9, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002662183

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Benign
(May 9, 2017)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002662183.2

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

#	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: Oct 26, 2024

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