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NM_000038.6(APC):c.2308T>C (p.Ser770Pro)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
4 (Most recent: Jan 7, 2021)
Last evaluated:
Oct 28, 2020
Accession:
VCV000140988.8
Variation ID:
140988
Description:
single nucleotide variant
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NM_000038.6(APC):c.2308T>C (p.Ser770Pro)

Allele ID
150702
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112837902 (GRCh38) GRCh38 UCSC
5: 112173599 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.112837902T>C
NC_000005.9:g.112173599T>C
NM_000038.6:c.2308T>C MANE Select NP_000029.2:p.Ser770Pro missense
... more HGVS
Protein change
S752P, S770P, S745P, S487P, S644P, S679P, S742P, S788P, S669P, S780P, S610P, S711P, S729P
Other names
-
Canonical SPDI
NC_000005.10:112837901:T:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD) 0.00003
Links
ClinGen: CA007358
dbSNP: rs587781419
Varsome
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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 Jun 17, 2019 RCV000129288.7
Uncertain significance 2 criteria provided, multiple submitters, no conflicts Oct 28, 2020 RCV000231752.6
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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
8955 8989

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 30, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Ambry Genetics
Accession: SCV000184049.6
Submitted: (Nov 30, 2020)
Evidence details
Comment:
The p.S770P variant (also known as c.2308T>C), located in coding exon 15 of the APC gene, results from a T to C substitution at nucleotide … (more)
Uncertain significance
(Oct 28, 2020)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000282716.6
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces serine with proline at codon 770 of the APC protein (p.Ser770Pro). The serine residue is highly conserved and there is a … (more)
Uncertain significance
(Sep 18, 2017)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: unknown
Counsyl
Accession: SCV000785558.2
Submitted: (Jun 20, 2018)
Evidence details
Publications
PubMed (1)
Uncertain significance
(Jun 17, 2019)
criteria provided, single submitter
Method: clinical testing
Hereditary cancer-predisposing syndrome
Allele origin: germline
Color Health, Inc
Accession: SCV000681516.3
Submitted: (May 19, 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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Title Author Journal Year Link
Prevalence of germline mutations in cancer predisposition genes in patients with pancreatic cancer. Grant RC Gastroenterology 2015 PMID: 25479140

Text-mined citations for rs587781419...

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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 May 13, 2021