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NM_000038.6(APC):c.3319G>T (p.Ala1107Ser)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Mar 28, 2019)
Last evaluated:
Jul 10, 2018
Accession:
VCV000411388.2
Variation ID:
411388
Description:
single nucleotide variant
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NM_000038.6(APC):c.3319G>T (p.Ala1107Ser)

Allele ID
394500
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
5q22.2
Genomic location
5: 112838913 (GRCh38) GRCh38 UCSC
5: 112174610 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000005.9:g.112174610G>T
NC_000005.10:g.112838913G>T
NM_001127511.3:c.3265G>T NP_001120983.2:p.Ala1089Ser missense
... more HGVS
Protein change
A1089S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA16028614
dbSNP: rs1060503283
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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 10, 2018 RCV000467558.3
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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
(Jul 02, 2018)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: unknown
Mendelics
Accession: SCV000838104.1
Submitted: (Aug 20, 2018)
Evidence details
Uncertain significance
(Jul 10, 2018)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000552525.3
Submitted: (Mar 28, 2019)
Evidence details
Comment:
This sequence change replaces alanine with serine at codon 1107 of the APC protein (p.Ala1107Ser). The alanine residue is moderately conserved and there is a ... (more)

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