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NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)

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Interpretation:
Conflicting interpretations of pathogenicity​

Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
4 (Most recent: Jul 4, 2021)
Last evaluated:
Jan 1, 2021
Accession:
VCV000218446.7
Variation ID:
218446
Description:
single nucleotide variant
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NM_000384.3(APOB):c.4178C>T (p.Ala1393Val)

Allele ID
215244
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p24.1
Genomic location
2: 21013198 (GRCh38) GRCh38 UCSC
2: 21236070 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.21236070G>A
NC_000002.12:g.21013198G>A
NM_000384.3:c.4178C>T MANE Select NP_000375.3:p.Ala1393Val missense
NG_011793.1:g.35876C>T
Protein change
A1393V
Other names
-
Canonical SPDI
NC_000002.12:21013197:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00100 (A)

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00080
Trans-Omics for Precision Medicine (TOPMed) 0.00070
1000 Genomes Project 0.00100
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00054
Exome Aggregation Consortium (ExAC) 0.00022
The Genome Aggregation Database (gnomAD), exomes 0.00021
Links
ClinGen: CA060637
dbSNP: rs143282164
Varsome
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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 Apr 14, 2015 RCV000203214.1
Likely benign 1 criteria provided, single submitter Oct 30, 2020 RCV000655149.4
Likely benign 1 criteria provided, single submitter Jun 6, 2018 RCV000776487.1
Likely benign 1 criteria provided, single submitter Jan 1, 2021 RCV001311182.1
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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 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2194 2311

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 14, 2015)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: unknown
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia
Accession: SCV000257682.2
Submitted: (Aug 10, 2015)
Evidence details
Likely benign
(Oct 30, 2020)
criteria provided, single submitter
Method: clinical testing
Hypobetalipoproteinemia, familial, 1
Familial hypercholesterolemia 2
Allele origin: germline
Invitae
Accession: SCV000777074.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Jan 01, 2021)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
CeGaT Praxis fuer Humangenetik Tuebingen
Accession: SCV001501254.2
Submitted: (Jul 04, 2021)
Evidence details
Likely benign
(Jun 06, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemias
Allele origin: germline
Color Health, Inc
Accession: SCV000912067.1
Submitted: (Nov 06, 2018)
Evidence details
Comment:
Likely Benign based on current evidence: This variant (also known as p.Ala1366Val in the mature protein) is a missense variant located in the beta 1 … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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

Text-mined citations for rs143282164...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Jul 10, 2021