NM_001127511.3(APC):c.-134_-133insGC AND Familial adenomatous polyposis 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 9, 2022
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:: RCV003773044.1

Allele description

NM_001127511.3(APC):c.-134_-133insGC

Gene:

APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]

Variant type:

Insertion

Cytogenetic location:

5q22.2

Genomic location:

Preferred name:

NM_001127511.3(APC):c.-134_-133insGC

HGVS:

NC_000005.10:g.112707584_112707585insGC
NG_008481.4:g.20064_20065insGC
NG_173817.1:g.207_208insGC
NM_001127511.3:c.-134_-133insGC
NM_001354895.2:c.-317_-316insGC
NM_001354897.2:c.-134_-133insGC
NM_001354902.2:c.-134_-133insGC
NM_001407446.1:c.-134_-133insGC
NM_001407447.1:c.-317_-316insGC
NM_001407448.1:c.-84_-83insGC
NM_001407450.1:c.-84_-83insGC
NM_001407452.1:c.-317_-316insGC
NM_001407453.1:c.-108_-107insGC
NM_001407456.1:c.-317_-316insGC
NM_001407457.1:c.-84_-83insGC
NM_001407458.1:c.-84_-83insGC
NM_001407460.1:c.-317_-316insGC
NM_001407469.1:c.-317_-316insGC
NM_001407470.1:c.-1352_-1351insGC
NM_001407472.1:c.-1352_-1351insGC
LRG_130t3:c.-317_-316insGC
LRG_130:g.20064_20065insGC
NC_000005.9:g.112043281_112043282insGC
NM_001127511.1:c.-317_-316insGC
NR_176365.1:n.87_88insGC
NR_176366.1:n.87_88insGC

Links:

dbSNP: rs1561393341

NCBI 1000 Genomes Browser:

rs1561393341

Molecular consequence:

NM_001127511.3:c.-134_-133insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354895.2:c.-317_-316insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354897.2:c.-134_-133insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354902.2:c.-134_-133insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407446.1:c.-134_-133insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407447.1:c.-317_-316insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407448.1:c.-84_-83insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407450.1:c.-84_-83insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407452.1:c.-317_-316insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407453.1:c.-108_-107insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407456.1:c.-317_-316insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407457.1:c.-84_-83insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407458.1:c.-84_-83insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407460.1:c.-317_-316insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407469.1:c.-317_-316insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407470.1:c.-1352_-1351insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407472.1:c.-1352_-1351insGC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NR_176365.1:n.87_88insGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176366.1:n.87_88insGC - non-coding transcript variant - [Sequence Ontology: SO:0001619]

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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Ubap2 ubiquitin-associated protein 2 [Mus musculus]
Ubap2 ubiquitin-associated protein 2 [Mus musculus]
Gene ID:68926

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002256285	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Dec 9, 2022)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002256285

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Dec 9, 2022)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

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Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Invitae, SCV002256285.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

This variant has not been reported in the literature in individuals affected with APC-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant is not present in population databases (gnomAD no frequency). This variant occurs in a non-coding region of the APC gene. It does not change the encoded amino acid sequence of the APC protein.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 16, 2024

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