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

Germline classification:: Benign (2 submissions)
Last evaluated:: Dec 19, 2023
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:: RCV000776056.11

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:: Familial hypercholesterolemia
Identifiers:: MONDO: MONDO:0005439; MedGen: C0020445; OMIM: PS143890

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000910691	Color Diagnostics, LLC DBA Color Health	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Mar 7, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005074052	GENinCode PLC	criteria provided, single submitter (ACMG Guidelines, 2015)	Benign (Dec 19, 2023)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000910691

Color Diagnostics, LLC DBA Color Health

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Mar 7, 2018)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

SCV005074052

GENinCode PLC

criteria provided, single submitter

(ACMG Guidelines, 2015)

Benign
(Dec 19, 2023)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Color Diagnostics, LLC DBA Color Health, SCV000910691.1

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

#	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 GENinCode PLC, SCV005074052.1

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

#	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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