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NM_000038.6(APC):c.2461G>A (p.Val821Ile)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
6 (Most recent: Apr 24, 2019)
Last evaluated:
Oct 12, 2018
Accession:
VCV000181793.5
Variation ID:
181793
Description:
single nucleotide variant
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NM_000038.6(APC):c.2461G>A (p.Val821Ile)

Allele ID
180186
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112838055 (GRCh38) GRCh38 UCSC
5: 112173752 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.112838055G>A
NC_000005.9:g.112173752G>A
NM_000038.6:c.2461G>A NP_000029.2:p.Val821Ile missense
... more HGVS
Protein change
V803I
Other names
p.V821I:GTC>ATC
Functional consequence
-
Global minor allele frequency (GMAF)
0.00060 (A)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
Exome Aggregation Consortium (ExAC) 0.00004
Trans-Omics for Precision Medicine (TOPMed) 0.00004
NHLBI Exome Sequencing Project (ESP) Exome Variant Server 0.00015
1000 Genomes Project 0.00060
Links
ClinGen: CA007489
dbSNP: rs138498551
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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 Jul 20, 2018 RCV000205053.3
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 12, 2018 RCV000572390.2
Uncertain significance 1 criteria provided, single submitter Mar 2, 2016 RCV000159539.2
Uncertain significance 1 criteria provided, single submitter Jun 15, 2018 RCV000779726.1
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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
(Jun 14, 2016)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: unknown
Counsyl
Accession: SCV000488774.1
Submitted: (Nov 23, 2016)
Evidence details
Uncertain significance
(Jan 17, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000667481.2
Submitted: (Jul 30, 2018)
Evidence details
Comment:
Lines of evidence used in support of classification: Insufficient or conflicting evidence
Uncertain significance
(Mar 02, 2016)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000209501.12
Submitted: (Jan 29, 2019)
Evidence details
Comment:
This variant is denoted APC c.2461G>A at the cDNA level, p.Val821Ile (V821I) at the protein level, and results in the change of a Valine to ... (more)
Uncertain significance
(Jun 15, 2018)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Integrated Genetics/Laboratory Corporation of America
Accession: SCV000916489.1
Submitted: (Apr 24, 2019)
Evidence details
Comment:
Variant summary: APC c.2461G>A (p.Val821Ile) results in a conservative amino acid change in the encoded protein sequence. Three of five in-silico tools predict a damaging ... (more)
Uncertain significance
(Jul 20, 2018)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000261338.3
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces valine with isoleucine at codon 821 of the APC protein (p.Val821Ile). The valine residue is highly conserved and there is a ... (more)
Uncertain significance
(Oct 12, 2018)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color
Accession: SCV000903454.1
Submitted: (Nov 06, 2018)
Evidence details

Citations for this variant

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 Jan 14, 2020