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NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
7 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 6, 2020
Accession:
VCV000128424.8
Variation ID:
128424
Description:
2bp inversion
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NM_000384.3(APOB):c.6936_6937inv (p.Ile2313Val)

Allele ID
133873
Variant type
Inversion
Variant length
2 bp
Cytogenetic location
2p24.1
Genomic location
2: 21009931-21009932 (GRCh38) GRCh38 UCSC
2: 21232803-21232804 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.21232803_21232804inv
NC_000002.12:g.21009931_21009932inv
NG_011793.1:g.39142C>T
NM_000384.3:c.6936_6937inv MANE Select NP_000375.3:p.Ile2313Val missense
Protein change
I2313V
Other names
-
Canonical SPDI
NC_000002.12:21009930:TG:CA
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA022904
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 3 criteria provided, multiple submitters, no conflicts Oct 7, 2016 RCV000116388.6
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000283635.2
Likely benign 1 criteria provided, single submitter Jun 14, 2016 RCV000392137.2
Benign 1 criteria provided, single submitter Dec 6, 2020 RCV000655178.4
Benign 1 criteria provided, single submitter Mar 6, 2020 RCV000771028.2
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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 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
2209 2326

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(-)
criteria provided, single submitter
Method: clinical testing
NOT SPECIFIED
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000303946.1
Submitted: (Apr 28, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial Hypercholesterolemia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000427047.2
Submitted: (Oct 18, 2016)
Evidence details
Likely benign
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial Hypobetalipoproteinemia
Allele origin: germline
Illumina Clinical Services Laboratory,Illumina
Accession: SCV000427048.2
Submitted: (Oct 18, 2016)
Evidence details
Benign
(Oct 07, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000519284.4
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)
Benign
(Mar 06, 2020)
criteria provided, single submitter
Method: clinical testing
Familial hypercholesterolemia
Allele origin: germline
Color Health, Inc
Accession: SCV000902524.2
Submitted: (May 19, 2020)
Evidence details
Benign
(Dec 06, 2020)
criteria provided, single submitter
Method: clinical testing
Hypobetalipoproteinemia, familial, 1
Familial hypercholesterolemia 2
Allele origin: germline
Invitae
Accession: SCV000777103.4
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
AllHighlyPenetrant
(Autosomal dominant inheritance)
Allele origin: germline
Genetic Services Laboratory,University of Chicago
Accession: SCV000150312.2
Submitted: (Jun 27, 2014)
Evidence details
Comment:
Likely benign based on allele frequency in 1000 Genomes Project or ESP global frequency and its presence in a patient with a rare or unrelated … (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.

Record last updated Oct 30, 2021