NM_000384.3(APOB):c.6543del (p.Phe2181fs) AND not provided

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jun 21, 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:: RCV002473109.8

Allele description [Variation Report for NM_000384.3(APOB):c.6543del (p.Phe2181fs)]

NM_000384.3(APOB):c.6543del (p.Phe2181fs)

Gene:

APOB:apolipoprotein B [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p24.1

Genomic location:

Preferred name:

NM_000384.3(APOB):c.6543del (p.Phe2181fs)

HGVS:

NC_000002.12:g.21010327del
NG_011793.1:g.38749del
NM_000384.3:c.6543delMANE SELECT
NP_000375.3:p.Phe2181fs
NC_000002.11:g.21233197del
NC_000002.11:g.21233199del
NM_000384.2:c.6543del
NM_000384.2:c.6543delT

Protein change:

F2181fs

Links:

dbSNP: rs1558564161

NCBI 1000 Genomes Browser:

rs1558564161

Molecular consequence:

NM_000384.3:c.6543del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV002770114	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Jun 21, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002770114

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Jun 21, 2022)

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

Details of each submission

From GeneDx, SCV002770114.1

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

Description

Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 22095935)

#	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		not provided	not provided	not provided	not provided

Last Updated: Nov 3, 2024

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