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NM_000038.6(APC):c.2716T>G (p.Ser906Ala)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Nov 23, 2016)
Last evaluated:
Mar 22, 2016
Accession:
VCV000188207.1
Variation ID:
188207
Description:
single nucleotide variant
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NM_000038.6(APC):c.2716T>G (p.Ser906Ala)

Allele ID
186032
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112838310 (GRCh38) GRCh38 UCSC
5: 112174007 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.10:g.112838310T>G
NC_000005.9:g.112174007T>G
NM_001354899.2:c.2632T>G NP_001341828.1:p.Ser878Ala missense
... more HGVS
Protein change
S888A
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA007751
dbSNP: rs786204146
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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 Mar 22, 2016 RCV000168132.1
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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
(Nov 01, 2014)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000218791.3
Submitted: (Sep 11, 2015)
Evidence details
Comment:
This sequence change replaces serine with alanine at codon 906 of the APC protein (p.Ser906Ala). The serine residue is highly conserved and there is a ... (more)
Uncertain significance
(Mar 22, 2016)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: unknown
Counsyl
Accession: SCV000488397.1
Submitted: (Nov 23, 2016)
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 24, 2020