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NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)

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Interpretation:
Conflicting interpretations of pathogenicity​

Benign(6);Likely benign(3);Uncertain significance(1)

Review status:
criteria provided, conflicting interpretations
Submissions:
10 (Most recent: Jan 7, 2021)
Last evaluated:
Nov 25, 2020
Accession:
VCV000218442.7
Variation ID:
218442
Description:
single nucleotide variant
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NM_000384.3(APOB):c.2222C>A (p.Thr741Asn)

Allele ID
215248
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2p24.1
Genomic location
2: 21026810 (GRCh38) GRCh38 UCSC
2: 21249682 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NG_011793.1:g.22264C>A
NC_000002.11:g.21249682G>T
NC_000002.12:g.21026810G>T
NM_000384.3:c.2222C>A MANE Select NP_000375.3:p.Thr741Asn missense
Protein change
T741N
Other names
-
Canonical SPDI
NC_000002.12:21026809:G:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA055604
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Jan 13, 2018 RCV000321016.2
Benign 1 criteria provided, single submitter May 4, 2017 RCV000610226.1
Benign 1 criteria provided, single submitter Aug 4, 2017 RCV000771090.1
Benign 1 criteria provided, single submitter May 8, 2018 RCV000759456.4
Benign 1 criteria provided, single submitter Nov 25, 2020 RCV001083269.2
Benign 1 criteria provided, single submitter Jan 13, 2018 RCV001094739.1
Conflicting interpretations of pathogenicity 4 criteria provided, conflicting interpretations Jan 2, 2018 RCV000202991.5
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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
2221 2338

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Feb 16, 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: SCV000257678.2
Submitted: (Aug 10, 2015)
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: SCV000588422.1
Submitted: (Aug 04, 2017)
Evidence details
Benign
(Jun 26, 2017)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Color Health, Inc
Accession: SCV000687216.1
Submitted: (Dec 21, 2017)
Evidence details
Benign
(May 04, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000714914.1
Submitted: (Mar 26, 2018)
Evidence details
Comment:
This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at … (more)
Likely benign
(Jan 02, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 1
(Autosomal dominant inheritance)
Allele origin: germline
Robarts Research Institute,Western University
Accession: SCV000782828.1
Submitted: (Apr 09, 2018)
Evidence details
Benign
(May 08, 2018)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000888783.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Aug 04, 2017)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemias
Allele origin: germline
Color Health, Inc
Accession: SCV000902651.1
Submitted: (Nov 06, 2018)
Evidence details
Likely benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Hypobetalipoproteinemia, familial, 1
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000427140.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Jan 13, 2018)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia 2
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000427141.3
Submitted: (Feb 20, 2020)
Evidence details
Comment:
This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated … (more)
Benign
(Nov 25, 2020)
criteria provided, single submitter
Method: clinical testing
Hypobetalipoproteinemia, familial, 1
Familial hypercholesterolemia 2
Allele origin: germline
Invitae
Accession: SCV000659273.5
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 Nov 27, 2021