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NC_000005.10:g.112766352_112766353insTTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGT AND Familial adenomatous polyposis 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 17, 2023
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003744838.1

Allele description [Variation Report for NC_000005.10:g.112766352_112766353insTTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGT]

NC_000005.10:g.112766352_112766353insTTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGT

Gene:
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NC_000005.10:g.112766352_112766353insTTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGT
HGVS:
  • NC_000005.10:g.112766352_112766353insTTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGT
  • NG_008481.4:g.78832_78833insTTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGT
  • LRG_130:g.78832_78833insTTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGT
  • NC_000005.9:g.112102004_112102005insTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGTT
  • NC_000005.9:g.112102049_112102050insTTTGTGTTCTTTTTAACAGGAAGTACTTAAACAACTACAAGGAAGT

Condition(s)

Name:
Familial adenomatous polyposis 1 (FAP1)
Synonyms:
POLYPOSIS, ADENOMATOUS INTESTINAL; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; APC-Associated Polyposis Conditions
Identifiers:
MONDO: MONDO:0021056; MedGen: C2713442; OMIM: 175100

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003287610Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jul 17, 2023) 		germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Mutational screening of the APC gene in Chilean families with familial adenomatous polyposis: nine novel truncating mutations.

De la Fuente MK, Alvarez KP, Letelier AJ, Bellolio F, Acuña ML, León FS, Pinto E, Carvallo P, López-Köstner F.

Dis Colon Rectum. 2007 Dec;50(12):2142-8.

PubMed [citation]
PMID:
17963004

Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-year medical genetics service to French patients with FAP.

Lagarde A, Rouleau E, Ferrari A, Noguchi T, Qiu J, Briaux A, Bourdon V, Rémy V, Gaildrat P, Adélaïde J, Birnbaum D, Lidereau R, Sobol H, Olschwang S.

J Med Genet. 2010 Oct;47(10):721-2. doi: 10.1136/jmg.2010.078964. Epub 2010 Aug 3.

PubMed [citation]
PMID:
20685668
See all PubMed Citations (3)

Details of each submission

From Invitae, SCV003287610.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)

Description

For these reasons, this variant has been classified as Pathogenic. RNA analysis performed to evaluate the impact of this premature translational stop signal on mRNA splicing indicates it does not significantly alter splicing (Invitae). ClinVar contains an entry for this variant (Variation ID: 2076032). This sequence change creates a premature translational stop signal (p.Ile55Phefs*10) in the APC gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APC are known to be pathogenic (PMID: 17963004, 20685668). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024