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

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Germline classification:: Benign (1 submission)
Last evaluated:: Jan 31, 2024
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:: RCV003538802.1

Allele description

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

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_-133insGG

HGVS:

NC_000005.10:g.112707584_112707585insGG
NG_008481.4:g.20064_20065insGG
NG_173817.1:g.207_208insGG
NM_001127511.3:c.-134_-133insGG
NM_001354895.2:c.-317_-316insGG
NM_001354897.2:c.-134_-133insGG
NM_001354902.2:c.-134_-133insGG
NM_001407446.1:c.-134_-133insGG
NM_001407447.1:c.-317_-316insGG
NM_001407448.1:c.-84_-83insGG
NM_001407450.1:c.-84_-83insGG
NM_001407452.1:c.-317_-316insGG
NM_001407453.1:c.-108_-107insGG
NM_001407456.1:c.-317_-316insGG
NM_001407457.1:c.-84_-83insGG
NM_001407458.1:c.-84_-83insGG
NM_001407460.1:c.-317_-316insGG
NM_001407469.1:c.-317_-316insGG
NM_001407470.1:c.-1352_-1351insGG
NM_001407472.1:c.-1352_-1351insGG
LRG_130t3:c.-317_-316insGG
LRG_130:g.20064_20065insGG
NC_000005.9:g.112043281_112043282insGG
NM_001127511.1:c.-317_-316insGG
NR_176365.1:n.87_88insGG
NR_176366.1:n.87_88insGG

Links:

dbSNP: rs1561393341

NCBI 1000 Genomes Browser:

rs1561393341

Molecular consequence:

NM_001127511.3:c.-134_-133insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354895.2:c.-317_-316insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354897.2:c.-134_-133insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354902.2:c.-134_-133insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407446.1:c.-134_-133insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407447.1:c.-317_-316insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407448.1:c.-84_-83insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407450.1:c.-84_-83insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407452.1:c.-317_-316insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407453.1:c.-108_-107insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407456.1:c.-317_-316insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407457.1:c.-84_-83insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407458.1:c.-84_-83insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407460.1:c.-317_-316insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407469.1:c.-317_-316insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407470.1:c.-1352_-1351insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407472.1:c.-1352_-1351insGG - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NR_176365.1:n.87_88insGG - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176366.1:n.87_88insGG - 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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001725167	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Jan 31, 2024)	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

SCV001725167

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Jan 31, 2024)

germline

clinical testing

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

Help

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, SCV001725167.4

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

#	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: Jun 2, 2024

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