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NM_000038.6(APC):c.259C>T (p.Leu87=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Sep 30, 2021)
Last evaluated:
May 5, 2021
Accession:
VCV000135691.8
Variation ID:
135691
Description:
single nucleotide variant
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NM_000038.6(APC):c.259C>T (p.Leu87=)

Allele ID
139403
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112767227 (GRCh38) GRCh38 UCSC
5: 112102924 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_130:g.79707C>T
NC_000005.10:g.112767227C>T
NC_000005.9:g.112102924C>T
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000005.10:112767226:C:T
Functional consequence
-
Global minor allele frequency (GMAF)
0.00080 (T)

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00027
1000 Genomes Project 0.00080
Exome Aggregation Consortium (ExAC) 0.00027
Links
ClinGen: CA007647
dbSNP: rs569640184
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 5, 2021 RCV000122765.11
Benign/Likely benign 2 criteria provided, multiple submitters, no conflicts May 28, 2016 RCV000163523.4
Benign 1 criteria provided, single submitter Dec 4, 2020 RCV001079418.2
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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
9015 9049

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 21, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000214081.5
Submitted: (Nov 30, 2020)
Evidence details
Comment:
This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, … (more)
Benign
(Dec 04, 2020)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000166022.10
Submitted: (Jan 07, 2021)
Evidence details
Benign
(May 28, 2016)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000681538.1
Submitted: (Oct 26, 2017)
Evidence details
Benign
(Feb 14, 2019)
criteria provided, single submitter
Method: clinical testing
not provided
Allele origin: germline
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001133312.1
Submitted: (Oct 16, 2019)
Evidence details
Likely benign
(May 05, 2021)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000524797.5
Submitted: (Sep 30, 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.

Text-mined citations for rs569640184...

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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 Nov 20, 2021