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NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
3 (Most recent: Mar 6, 2020)
Last evaluated:
Jun 24, 2019
Accession:
VCV000217937.2
Variation ID:
217937
Description:
13bp indel
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NM_000038.6(APC):c.1892_1904delinsAAT (p.Ile631fs)

Allele ID
214693
Variant type
Indel
Variant length
13 bp
Cytogenetic location
5q22.2
Genomic location
5: 112835099-112835111 (GRCh38) GRCh38 UCSC
5: 112170796-112170808 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
LRG_130:g.147579_147591delinsAAT
NC_000005.10:g.112835099_112835111delinsAAT
NC_000005.9:g.112170796_112170808delinsAAT
... more HGVS
Protein change
I471fs, I505fs, I530fs, I572fs, I606fs, I631fs, I590fs, I613fs, I348fs, I540fs, I603fs, I649fs, I641fs
Other names
-
Canonical SPDI
NC_000005.10:112835098:TTATTGAAAGTGG:AAT
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA279732
dbSNP: rs863225319
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 criteria provided, single submitter Jun 25, 2016 RCV000227617.2
Likely pathogenic 1 criteria provided, single submitter Jun 24, 2019 RCV001192828.1
Likely pathogenic 1 no assertion criteria provided - RCV000202093.1
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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
8964 8998

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 25, 2016)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis 1
Allele origin: germline
Invitae
Accession: SCV000282706.3
Submitted: (Mar 14, 2017)
Evidence details
Comment:
This sequence change deletes 13 nucleotides and inserts 3 nucleotides in exon 15 of the APC mRNA (c.1892_1904delTTATTGAAAGTGGinsAAT), causing a frameshift at codon 631. This … (more)
Likely pathogenic
(Jun 24, 2019)
criteria provided, single submitter
Method: clinical testing
Familial adenomatous polyposis
Allele origin: germline
Women's Health and Genetics/Laboratory Corporation of America, LabCorp
Accession: SCV001361207.1
Submitted: (Mar 06, 2020)
Evidence details
Comment:
Variant summary: APC c.1892_1904delinsAAT (p.Ile631LysfsX2) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein … (more)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
not provided
Allele origin: unknown
Mayo Clinic Laboratories, Mayo Clinic
Accession: SCV000256933.1
Submitted: (Nov 19, 2015)
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 rs863225319...

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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 Oct 08, 2021