NM_000384.3(APOB):c.6467T>C (p.Ile2156Thr) AND Cardiovascular phenotype

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 19, 2021
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:: RCV002365878.4

Allele description [Variation Report for NM_000384.3(APOB):c.6467T>C (p.Ile2156Thr)]

NM_000384.3(APOB):c.6467T>C (p.Ile2156Thr)

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.6467T>C (p.Ile2156Thr)

HGVS:

NC_000002.12:g.21010401A>G
NG_011793.1:g.38673T>C
NM_000384.2:c.6467T>C
NM_000384.3:c.6467T>CMANE SELECT
NP_000375.3:p.Ile2156Thr
NC_000002.11:g.21233273A>G

Protein change:

I2156T

Links:

dbSNP: rs1232529396

NCBI 1000 Genomes Browser:

rs1232529396

Molecular consequence:

NM_000384.3:c.6467T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Cardiovascular phenotype
Identifiers:: MedGen: CN230736

Recent activity

Clear Turn Off Turn On

ectodermalneural cortex 1-like protein, partial [Ameca splendens]
ectodermalneural cortex 1-like protein, partial [Ameca splendens]
gi|1357622093|gb|AVL95403.1|

Protein
NO synthase
NO synthase
gi|742990|prf||2011304A

Protein

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
SCV002656585	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Apr 19, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002656585

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Apr 19, 2021)

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, SCV002656585.2

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

Description

The p.I2156T variant (also known as c.6467T>C), located in coding exon 26 of the APOB gene, results from a T to C substitution at nucleotide position 6467. The isoleucine at codon 2156 is replaced by threonine, an amino acid with similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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

ClinVar

Relating variation to medicine