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NM_000038.6(APC):c.3264G>A (p.Lys1088=)

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Interpretation:
Benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
9 (Most recent: Jan 7, 2021)
Last evaluated:
Dec 7, 2020
Accession:
VCV000136409.8
Variation ID:
136409
Description:
single nucleotide variant
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NM_000038.6(APC):c.3264G>A (p.Lys1088=)

Allele ID
140112
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112838858 (GRCh38) GRCh38 UCSC
5: 112174555 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.112838858G>A
NC_000005.9:g.112174555G>A
NG_008481.4:g.151338G>A
... more HGVS
Protein change
-
Other names
p.K1088K:AAG>AAA
Canonical SPDI
NC_000005.10:112838857:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
0.00220 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00051
Exome Aggregation Consortium (ExAC) 0.00066
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00231
1000 Genomes Project 0.00220
The Genome Aggregation Database (gnomAD) 0.00245
Trans-Omics for Precision Medicine (TOPMed) 0.00250
Trans-Omics for Precision Medicine (TOPMed) 0.00252
The Genome Aggregation Database (gnomAD) 0.00255
Links
ClinGen: CA008217
dbSNP: rs114774495
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 2 criteria provided, multiple submitters, no conflicts Apr 19, 2016 RCV000129142.6
Benign 4 criteria provided, multiple submitters, no conflicts Feb 13, 2017 RCV000211908.6
Benign 2 criteria provided, multiple submitters, no conflicts Feb 13, 2017 RCV000586811.4
Benign 1 criteria provided, single submitter Dec 7, 2020 RCV001082660.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
APC Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
9017 9051

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Mar 14, 2016)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV000694029.1
Submitted: (Jan 25, 2018)
Evidence details
Benign
(Feb 13, 2017)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000600079.1
Submitted: (Aug 01, 2017)
Evidence details
Benign
(Apr 19, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000681588.1
Submitted: (Oct 26, 2017)
Evidence details
Benign
(Mar 10, 2014)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
GeneDx
Accession: SCV000167005.11
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
(Jul 20, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
PreventionGenetics,PreventionGenetics
Accession: SCV000805392.1
Submitted: (Jan 29, 2018)
Evidence details
Benign
(Feb 13, 2017)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV000887520.1
Submitted: (Aug 31, 2018)
Evidence details
Benign
(Dec 07, 2020)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000252582.9
Submitted: (Jan 07, 2021)
Evidence details
Benign
(Jul 16, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000183863.7
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA … (more)
Likely benign
(-)
no assertion criteria provided
Method: clinical testing
not specified
Allele origin: unknown
Mayo Clinic Laboratories,Mayo Clinic
Accession: SCV000691733.1
Submitted: (Oct 31, 2017)
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.

Text-mined citations for rs114774495...

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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 Dec 02, 2021