NM_000038.6(APC):c.2807del (p.Asn936fs) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 5, 2015
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:: RCV002441651.2

Allele description [Variation Report for NM_000038.6(APC):c.2807del (p.Asn936fs)]

NM_000038.6(APC):c.2807del (p.Asn936fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

5q22.2

Genomic location:

Preferred name:

NM_000038.6(APC):c.2807del (p.Asn936fs)

HGVS:

NC_000005.10:g.112838401del
NG_008481.4:g.150881del
NM_000038.6:c.2807delMANE SELECT
NM_001127510.3:c.2807del
NM_001127511.3:c.2753del
NM_001354895.2:c.2807del
NM_001354896.2:c.2861del
NM_001354897.2:c.2837del
NM_001354898.2:c.2732del
NM_001354899.2:c.2723del
NM_001354900.2:c.2684del
NM_001354901.2:c.2630del
NM_001354902.2:c.2534del
NM_001354903.2:c.2504del
NM_001354904.2:c.2429del
NM_001354905.2:c.2327del
NM_001354906.2:c.1958del
NM_001407446.1:c.2891delA
NM_001407447.1:c.2861delA
NM_001407448.1:c.2861delA
NM_001407449.1:c.2861delA
NM_001407450.1:c.2807delA
NM_001407451.1:c.2786delA
NM_001407452.1:c.2777delA
NM_001407453.1:c.2630delA
NM_001407454.1:c.2558delA
NM_001407455.1:c.2558delA
NM_001407456.1:c.2558delA
NM_001407457.1:c.2558delA
NM_001407458.1:c.2504delA
NM_001407459.1:c.2504delA
NM_001407460.1:c.2504delA
NM_001407467.1:c.2420delA
NM_001407469.1:c.2420delA
NM_001407470.1:c.1958delA
NM_001407471.1:c.1655delA
NM_001407472.1:c.1655delA
NP_000029.2:p.Asn936Ilefs
NP_000029.2:p.Asn936fs
NP_001120982.1:p.Asn936Ilefs
NP_001120982.1:p.Asn936fs
NP_001120983.1:p.Asn936Ilefs
NP_001120983.2:p.Asn918fs
NP_001341824.1:p.Asn936fs
NP_001341825.1:p.Asn954fs
NP_001341826.1:p.Asn946fs
NP_001341827.1:p.Asn911fs
NP_001341828.1:p.Asn908fs
NP_001341829.1:p.Asn895fs
NP_001341830.1:p.Asn877fs
NP_001341831.1:p.Asn845fs
NP_001341832.1:p.Asn835fs
NP_001341833.1:p.Asn810fs
NP_001341834.1:p.Asn776fs
NP_001341835.1:p.Asn653fs
NP_001394375.1:p.Asn964Ilefs
NP_001394376.1:p.Asn954Ilefs
NP_001394377.1:p.Asn954Ilefs
NP_001394378.1:p.Asn954Ilefs
NP_001394379.1:p.Asn936Ilefs
NP_001394380.1:p.Asn929Ilefs
NP_001394381.1:p.Asn926Ilefs
NP_001394382.1:p.Asn877Ilefs
NP_001394383.1:p.Asn853Ilefs
NP_001394384.1:p.Asn853Ilefs
NP_001394385.1:p.Asn853Ilefs
NP_001394386.1:p.Asn853Ilefs
NP_001394387.1:p.Asn835Ilefs
NP_001394388.1:p.Asn835Ilefs
NP_001394389.1:p.Asn835Ilefs
NP_001394396.1:p.Asn807Ilefs
NP_001394398.1:p.Asn807Ilefs
NP_001394399.1:p.Asn653Ilefs
NP_001394400.1:p.Asn552Ilefs
NP_001394401.1:p.Asn552Ilefs
LRG_130t1:c.2807del
LRG_130t2:c.2807del
LRG_130t3:c.2807del
LRG_130:g.150881del
LRG_130p1:p.Asn936Ilefs
LRG_130p2:p.Asn936Ilefs
LRG_130p3:p.Asn936Ilefs
NC_000005.9:g.112174098del
NM_000038.4:c.2807delA
NM_000038.5:c.2807delA
NM_001127510.1:c.2807delA
NM_001127511.1:c.2807delA
NR_176365.1:n.2642delA
NR_176366.1:n.3061delA

Protein change:

N653fs

Molecular consequence:

NM_000038.6:c.2807del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127510.3:c.2807del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127511.3:c.2753del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354895.2:c.2807del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354896.2:c.2861del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354897.2:c.2837del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354898.2:c.2732del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354899.2:c.2723del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354900.2:c.2684del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354901.2:c.2630del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354902.2:c.2534del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354903.2:c.2504del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354904.2:c.2429del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354905.2:c.2327del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354906.2:c.1958del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407446.1:c.2891delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407447.1:c.2861delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407448.1:c.2861delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407449.1:c.2861delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407450.1:c.2807delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407451.1:c.2786delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407452.1:c.2777delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407453.1:c.2630delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407454.1:c.2558delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407455.1:c.2558delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407456.1:c.2558delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407457.1:c.2558delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407458.1:c.2504delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407459.1:c.2504delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407460.1:c.2504delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407467.1:c.2420delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407469.1:c.2420delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407470.1:c.1958delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407471.1:c.1655delA - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407472.1:c.1655delA - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hereditary cancer-predisposing syndrome
Synonyms:: Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002747461	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Feb 5, 2015)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002747461

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Feb 5, 2015)

germline

clinical testing

Citation Link

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

Details of each submission

From Ambry Genetics, SCV002747461.2

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

Description

The c.2807delA pathogenic mutation, located in coding exon 15 of the APC gene, results from a deletion of one nucleotide at position 2807, causing a translational frameshift with a predicted alternate stop codon. Since frameshifts are typically deleterious in nature, this alteration is interpreted as a disease-causing mutation (ACMG Recommendations for Standards for Interpretation and Reporting of Sequence Variations. Revision 2007. Genet Med. 2008;10:294).

#	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: May 1, 2024

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