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NM_006231.4(POLE):c.2781C>T (p.Asn927=)

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Interpretation:
Benign/Likely benign​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
5 (Most recent: Jun 28, 2021)
Last evaluated:
Nov 24, 2020
Accession:
VCV000240445.9
Variation ID:
240445
Description:
single nucleotide variant
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NM_006231.4(POLE):c.2781C>T (p.Asn927=)

Allele ID
241419
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
12q24.33
Genomic location
12: 132661610 (GRCh38) GRCh38 UCSC
12: 133238196 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_789:g.30915C>T
LRG_789t1:c.2781C>T LRG_789p1:p.Asn927=
NC_000012.11:g.133238196G>A
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000012.12:132661609:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Trans-Omics for Precision Medicine (TOPMed) 0.00005
Trans-Omics for Precision Medicine (TOPMed) 0.00007
The Genome Aggregation Database (gnomAD) 0.00019
The Genome Aggregation Database (gnomAD) 0.00029
Exome Aggregation Consortium (ExAC) 0.00013
The Genome Aggregation Database (gnomAD), exomes 0.00015
Links
ClinGen: CA6893446
dbSNP: rs775486303
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Benign 1 criteria provided, single submitter Nov 5, 2020 RCV000227066.7
Benign 1 criteria provided, single submitter May 25, 2020 RCV000431063.4
Likely benign 1 criteria provided, single submitter Oct 11, 2015 RCV000563120.1
Likely benign 1 criteria provided, single submitter Nov 24, 2019 RCV001287081.2
Likely benign 1 criteria provided, single submitter Nov 24, 2020 RCV001527680.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
POLE Little evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
4997 5033

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Benign
(Nov 05, 2020)
criteria provided, single submitter
Method: clinical testing
Colorectal cancer, susceptibility to, 12
Allele origin: germline
Invitae
Accession: SCV000289309.7
Submitted: (Jan 07, 2021)
Evidence details
Likely benign
(Oct 11, 2015)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000671252.3
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)
Likely benign
(Nov 24, 2020)
criteria provided, single submitter
Method: clinical testing
Not Provided
Allele origin: germline
GeneDx
Accession: SCV000522046.5
Submitted: (Jun 28, 2021)
Evidence details
Benign
(May 25, 2020)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: unknown
Quest Diagnostics Nichols Institute San Juan Capistrano
Accession: SCV001469620.1
Submitted: (Dec 31, 2020)
Evidence details
Likely benign
(Nov 24, 2019)
criteria provided, single submitter
Method: clinical testing
none provided
Allele origin: germline
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories
Accession: SCV001473725.1
Submitted: (Dec 11, 2020)
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 rs775486303...

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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 27, 2021