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NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(1);Uncertain significance(4)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Oct 16, 2019)
Last evaluated:
May 1, 2019
Accession:
VCV000402380.4
Variation ID:
402380
Description:
single nucleotide variant
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NM_000384.3(APOB):c.7698G>C (p.Glu2566Asp)

Allele ID
389476
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p24.1
Genomic location
2: 21009170 (GRCh38) GRCh38 UCSC
2: 21232042 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.21232042C>G
NC_000002.12:g.21009170C>G
NM_000384.3:c.7698G>C NP_000375.3:p.Glu2566Asp missense
NG_011793.1:g.39904G>C
Protein change
E2566D
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00038
The Genome Aggregation Database (gnomAD), exomes 0.00011
Exome Aggregation Consortium (ExAC) 0.00008
Trans-Omics for Precision Medicine (TOPMed) 0.00012
Links
ClinGen: CA064695
dbSNP: rs149306841
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Jul 26, 2016 RCV000454407.1
Uncertain significance 1 criteria provided, single submitter Sep 14, 2017 RCV000584012.1
Uncertain significance 1 criteria provided, single submitter May 16, 2018 RCV000771192.1
Conflicting interpretations of pathogenicity 2 criteria provided, conflicting interpretations May 1, 2019 RCV000863432.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
APOB No evidence available No evidence available GRCh38
GRCh37
1038 1111

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Jul 26, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine
Accession: SCV000538333.1
Submitted: (Apr 03, 2017)
Evidence details
Comment:
Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or ... (more)
Uncertain significance
(Sep 14, 2017)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemias
Allele origin: germline
Color
Accession: SCV000687266.1
Submitted: (Dec 21, 2017)
Evidence details
Comment:
Variant of Uncertain Significance due to insufficient evidence: This variant is a missense variant located in the alpha 2 domain of the APOB protein. Computational ... (more)
Uncertain significance
(May 16, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemias
Allele origin: germline
Color
Accession: SCV000903178.1
Submitted: (Nov 06, 2018)
Evidence details
Comment:
Variant of Uncertain Significance due to insufficient evidence: This missense variant (also known as p.Glu2539Asp in the mature protein) is located in the alpha 2 ... (more)
Likely benign
(Jan 06, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Invitae
Accession: SCV001004093.1
Submitted: (Mar 14, 2019)
Evidence details
Uncertain significance
(May 01, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133421.1
Submitted: (Oct 16, 2019)
Evidence details

Citations for this variant

There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Jan 04, 2020