NM_000384.3(APOB):c.3382C>T (p.Arg1128Cys) AND not provided

Germline classification:: Conflicting interpretations of pathogenicity (2 submissions)
Last evaluated:: Nov 6, 2023
Review status:: criteria provided, conflicting classifications

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:: RCV002510992.23

Allele description [Variation Report for NM_000384.3(APOB):c.3382C>T (p.Arg1128Cys)]

NM_000384.3(APOB):c.3382C>T (p.Arg1128Cys)

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.3382C>T (p.Arg1128Cys)

HGVS:

NC_000002.12:g.21015496G>A
NG_011793.1:g.33578C>T
NM_000384.3:c.3382C>TMANE SELECT
NP_000375.3:p.Arg1128Cys
NC_000002.11:g.21238368G>A
NM_000384.2:c.3382C>T

Protein change:

R1128C

Links:

dbSNP: rs72653076

NCBI 1000 Genomes Browser:

rs72653076

Molecular consequence:

NM_000384.3:c.3382C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Borreliella burgdorferi strain Bb16-33-3 Bb16-33-3_18, whole genome shotgun sequ...
Borreliella burgdorferi strain Bb16-33-3 Bb16-33-3_18, whole genome shotgun sequence
gi|1360744184|ref|NZ_PHOU01000018.1 |WGS:NZ_PHOU01|Bb16-33-3_18

Nucleotide
Borreliella burgdorferi strain Bb16-33-3 Bb16-33-3_29, whole genome shotgun sequ...
Borreliella burgdorferi strain Bb16-33-3 Bb16-33-3_29, whole genome shotgun sequence
gi|1360744195|ref|NZ_PHOU01000029.1 |WGS:NZ_PHOU01|Bb16-33-3_29

Nucleotide
Hypericum undulatum subsp. undulatum genomic DNA containing ITS1, 5.8S rRNA gene...
Hypericum undulatum subsp. undulatum genomic DNA containing ITS1, 5.8S rRNA gene and ITS2, specimen voucher D.J. Goyer S.L. Jury 545 (BM), clone #7
gi|427183821|emb|HE662724.1|

Nucleotide
TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 isoform X2 [Macaca neme...
TGF-beta-activated kinase 1 and MAP3K7-binding protein 1 isoform X2 [Macaca nemestrina]
gi|795503466|ref|XP_011710616.1|

Protein
Homo sapiens
Homo sapiens
RefSeq annotation of the human reference genome assembly

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002822618	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely benign (Dec 1, 2022)	germline	clinical testing	Citation Link,
SCV003826860	Revvity Omics, Revvity	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Nov 6, 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

SCV002822618

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely benign
(Dec 1, 2022)

germline

clinical testing

Citation Link,

SCV003826860

Revvity Omics, Revvity

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Nov 6, 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	yes	1	not provided	not provided	not provided	not provided	clinical testing
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 CeGaT Center for Human Genetics Tuebingen, SCV002822618.14

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

Description

APOB: BP4

#	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		1	not provided	not provided	not provided

From Revvity Omics, Revvity, SCV003826860.2

#	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: Nov 10, 2024

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Relating variation to medicine