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NM_000038.6(APC):c.5386A>G (p.Lys1796Glu)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Nov 6, 2018)
Last evaluated:
Sep 5, 2018
Accession:
VCV000482237.2
Variation ID:
482237
Description:
single nucleotide variant
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NM_000038.6(APC):c.5386A>G (p.Lys1796Glu)

Allele ID
473889
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112840980 (GRCh38) GRCh38 UCSC
5: 112176677 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.112176677A>G
NC_000005.10:g.112840980A>G
NM_001127510.3:c.5386A>G NP_001120982.1:p.Lys1796Glu missense
... more HGVS
Protein change
K1778E
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00000
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00008
Links
ClinGen: CA16033101
dbSNP: rs367577259
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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 Sep 5, 2018 RCV000575127.3
Uncertain significance 1 criteria provided, single submitter Apr 19, 2018 RCV000699051.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
APC Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
6125 6156

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 19, 2018)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000827746.1
Submitted: (Aug 29, 2018)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces lysine with glutamic acid at codon 1796 of the APC protein (p.Lys1796Glu). The lysine residue is highly conserved and there is ... (more)
Uncertain significance
(Sep 29, 2017)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000667218.2
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient or conflicting evidence
Uncertain significance
(Sep 05, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000681735.2
Submitted: (Nov 06, 2018)
Evidence details

Citations for this variant

Title Author Journal Year Link
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. Nykamp K Genetics in medicine : official journal of the American College of Medical Genetics 2017 PMID: 28492532

Record last updated Jan 09, 2020