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NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(1);Likely benign(2);Uncertain significance(2)

Review status:
criteria provided, conflicting interpretations
Submissions:
5 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 27, 2020
Accession:
VCV000369882.6
Variation ID:
369882
Description:
single nucleotide variant
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NM_000384.3(APOB):c.10061C>G (p.Ala3354Gly)

Allele ID
354072
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p24.1
Genomic location
2: 21006807 (GRCh38) GRCh38 UCSC
2: 21229679 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.21229679G>C
NC_000002.12:g.21006807G>C
NM_000384.3:c.10061C>G MANE Select NP_000375.3:p.Ala3354Gly missense
NG_011793.1:g.42267C>G
Protein change
A3354G
Other names
-
Canonical SPDI
NC_000002.12:21006806:G:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA042354
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Mar 1, 2016 RCV000408877.2
Benign 1 criteria provided, single submitter Oct 27, 2020 RCV000655106.4
Likely benign 1 criteria provided, single submitter Jul 15, 2017 RCV000776114.1
Likely benign 1 criteria provided, single submitter Jan 23, 2020 RCV001256895.1
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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
(-)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 1
(Autosomal dominant inheritance)
Allele origin: germline
Robarts Research Institute,Western University
Accession: SCV000484831.1
Submitted: (Nov 23, 2016)
Evidence details
Uncertain significance
(Mar 01, 2016)
criteria provided, single submitter
Method: research
Familial hypercholesterolemia
Allele origin: germline
Laboratory of Genetics and Molecular Cardiology, University of São Paulo
Study: HipercolBrasil
Accession: SCV000588449.1
Submitted: (Aug 04, 2017)
Evidence details
Likely benign
(Jul 15, 2017)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemias
Allele origin: germline
Color Health, Inc
Accession: SCV000910988.1
Submitted: (Nov 06, 2018)
Evidence details
Likely benign
(Jan 23, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute
Accession: SCV001433396.1
Submitted: (Jul 24, 2020)
Evidence details
Benign
(Oct 27, 2020)
criteria provided, single submitter
Method: clinical testing
Hypobetalipoproteinemia, familial, 1
Familial hypercholesterolemia 2
Allele origin: germline
Invitae
Accession: SCV000777031.4
Submitted: (Jan 07, 2021)
Evidence details

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.

Record last updated Jun 14, 2021