NM_000038.6(APC):c.7512G>A (p.Trp2504Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 29, 2016
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:: RCV000571946.3

Allele description [Variation Report for NM_000038.6(APC):c.7512G>A (p.Trp2504Ter)]

NM_000038.6(APC):c.7512G>A (p.Trp2504Ter)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q22.2

Genomic location:

Preferred name:

NM_000038.6(APC):c.7512G>A (p.Trp2504Ter)

HGVS:

NC_000005.10:g.112843106G>A
NG_008481.4:g.155586G>A
NM_000038.6:c.7512G>AMANE SELECT
NM_001127510.3:c.7512G>A
NM_001127511.3:c.7458G>A
NM_001354895.2:c.7512G>A
NM_001354896.2:c.7566G>A
NM_001354897.2:c.7542G>A
NM_001354898.2:c.7437G>A
NM_001354899.2:c.7428G>A
NM_001354900.2:c.7389G>A
NM_001354901.2:c.7335G>A
NM_001354902.2:c.7239G>A
NM_001354903.2:c.7209G>A
NM_001354904.2:c.7134G>A
NM_001354905.2:c.7032G>A
NM_001354906.2:c.6663G>A
NP_000029.2:p.Trp2504Ter
NP_001120982.1:p.Trp2504Ter
NP_001120983.2:p.Trp2486Ter
NP_001341824.1:p.Trp2504Ter
NP_001341825.1:p.Trp2522Ter
NP_001341826.1:p.Trp2514Ter
NP_001341827.1:p.Trp2479Ter
NP_001341828.1:p.Trp2476Ter
NP_001341829.1:p.Trp2463Ter
NP_001341830.1:p.Trp2445Ter
NP_001341831.1:p.Trp2413Ter
NP_001341832.1:p.Trp2403Ter
NP_001341833.1:p.Trp2378Ter
NP_001341834.1:p.Trp2344Ter
NP_001341835.1:p.Trp2221Ter
LRG_130:g.155586G>A
NC_000005.9:g.112178803G>A
NM_000038.5:c.7512G>A

Protein change:

W2221*

Links:

dbSNP: rs1554088413

NCBI 1000 Genomes Browser:

rs1554088413

Molecular consequence:

NM_000038.6:c.7512G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127510.3:c.7512G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001127511.3:c.7458G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354895.2:c.7512G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354896.2:c.7566G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354897.2:c.7542G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354898.2:c.7437G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354899.2:c.7428G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354900.2:c.7389G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354901.2:c.7335G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354902.2:c.7239G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354903.2:c.7209G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354904.2:c.7134G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354905.2:c.7032G>A - nonsense - [Sequence Ontology: SO:0001587]
NM_001354906.2:c.6663G>A - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000667495	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (Jan 29, 2016)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000667495

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(Jan 29, 2016)

germline

clinical testing

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

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

Citations

PubMed

A novel 3' mutation in the APC gene in a family presenting with a desmoid tumour.

Eccles D, Harvey J, Bateman A, Ross F.

J Med Genet. 2001 Dec;38(12):861-3. No abstract available.

PubMed [citation]

PMID:: 11768389
PMCID:: PMC1734779

Details of each submission

From Ambry Genetics, SCV000667495.5

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

Description

The p.W2504* pathogenic mutation (also known as c.7512G>A), located in coding exon 15 of the APC gene, results from a G to A substitution at nucleotide position 7512. This changes the amino acid from a tryptophan to a stop codon within coding exon 15. A different alteration, c.7511G>A, which is located in the same codon and results in the same protein substitution, p.W2504*, was detected in a father and daughter who had colorectal cancer and a desmoid tumor, respectively (Eccles D, et al. J. Med. Genet. 2001; 38(12):861-3). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation.

#	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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