NM_001127511.3(APC):c.-126dup AND Familial adenomatous polyposis 1

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Germline classification:: Benign (1 submission)
Last evaluated:: Feb 1, 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:: RCV002232996.16

Allele description

NM_001127511.3(APC):c.-126dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

5q22.2

Genomic location:

Preferred name:

NM_001127511.3(APC):c.-126dup

HGVS:

NC_000005.10:g.112707592dup
NC_000005.9:g.112043289dupG
NG_008481.4:g.20072dup
NG_173817.1:g.215dup
NM_001127511.3:c.-126dup
NM_001354895.2:c.-309dup
NM_001354897.2:c.-126dup
NM_001354902.2:c.-126dup
NM_001407446.1:c.-126dup
NM_001407447.1:c.-309dup
NM_001407448.1:c.-76dup
NM_001407450.1:c.-76dup
NM_001407452.1:c.-309dup
NM_001407453.1:c.-100dup
NM_001407456.1:c.-309dup
NM_001407457.1:c.-76dup
NM_001407458.1:c.-76dup
NM_001407460.1:c.-309dup
NM_001407469.1:c.-309dup
NM_001407470.1:c.-1344dup
NM_001407472.1:c.-1344dup
LRG_130t3:c.-309dup
LRG_130:g.20072dup
NC_000005.9:g.112043282_112043283insG
NC_000005.9:g.112043289dup
NC_000005.9:g.112043289dup
NM_000038.5:c.-30352dup
NM_001127511.1:c.-309dup
NM_001354897.2:c.-126dupG
NR_176365.1:n.95dup
NR_176366.1:n.95dup

Links:

dbSNP: rs565045828

NCBI 1000 Genomes Browser:

rs565045828

Molecular consequence:

NM_001127511.3:c.-126dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354895.2:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354897.2:c.-126dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001354902.2:c.-126dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407446.1:c.-126dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407447.1:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407448.1:c.-76dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407450.1:c.-76dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407452.1:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407453.1:c.-100dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407456.1:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407457.1:c.-76dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407458.1:c.-76dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407460.1:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407469.1:c.-309dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407470.1:c.-1344dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001407472.1:c.-1344dup - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NR_176365.1:n.95dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_176366.1:n.95dup - 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
SCV001001990	Invitae	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Benign (Feb 1, 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

SCV001001990

Invitae

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Benign
(Feb 1, 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, SCV001001990.7

#	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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