NM_000038.6(APC):c.4612_4613del (p.Glu1538fs) AND Gardner syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 1997
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000000866.11

Allele description [Variation Report for NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)]

NM_000038.6(APC):c.4612_4613del (p.Glu1538fs)

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.4612_4613del (p.Glu1538fs)

HGVS:

NC_000005.10:g.112840206_112840207del
NG_008481.4:g.152685_152686del
NG_008481.4:g.152686_152687del
NM_000038.6:c.4612_4613delMANE SELECT
NM_001127510.3:c.4612_4613del
NM_001127511.3:c.4558_4559del
NM_001354895.2:c.4612_4613del
NM_001354896.2:c.4666_4667del
NM_001354897.2:c.4642_4643del
NM_001354898.2:c.4537_4538del
NM_001354899.2:c.4528_4529del
NM_001354900.2:c.4489_4490del
NM_001354901.2:c.4435_4436del
NM_001354902.2:c.4339_4340del
NM_001354903.2:c.4309_4310del
NM_001354904.2:c.4234_4235del
NM_001354905.2:c.4132_4133del
NM_001354906.2:c.3763_3764del
NP_000029.2:p.Glu1538fs
NP_001120982.1:p.Glu1538fs
NP_001120983.2:p.Glu1520fs
NP_001341824.1:p.Glu1538fs
NP_001341825.1:p.Glu1556fs
NP_001341826.1:p.Glu1548fs
NP_001341827.1:p.Glu1513fs
NP_001341828.1:p.Glu1510fs
NP_001341829.1:p.Glu1497fs
NP_001341830.1:p.Glu1479fs
NP_001341831.1:p.Glu1447fs
NP_001341832.1:p.Glu1437fs
NP_001341833.1:p.Glu1412fs
NP_001341834.1:p.Glu1378fs
NP_001341835.1:p.Glu1255fs
LRG_130:g.152686_152687del
NC_000005.9:g.112175902_112175903del
NC_000005.9:g.112175903_112175904del
NG_008481.4:g.152685_152686del
NM_000038.5:c.4612_4613delGA

Protein change:

E1255fs

Links:

OMIM: 611731.0030; dbSNP: rs387906236

NCBI 1000 Genomes Browser:

rs387906236

Molecular consequence:

NM_000038.6:c.4612_4613del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127510.3:c.4612_4613del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127511.3:c.4558_4559del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354895.2:c.4612_4613del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354896.2:c.4666_4667del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354897.2:c.4642_4643del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354898.2:c.4537_4538del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354899.2:c.4528_4529del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354900.2:c.4489_4490del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354901.2:c.4435_4436del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354902.2:c.4339_4340del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354903.2:c.4309_4310del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354904.2:c.4234_4235del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354905.2:c.4132_4133del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354906.2:c.3763_3764del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Gardner syndrome (GS)
Synonyms:: Gardner's syndrome; Polyposis coli and multiple hard and soft tissue tumors; Intestinal polyposis, osteomas, sebaceous cysts
Identifiers:: MONDO: MONDO:0019336; MedGen: C0017097

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021016	OMIM	no assertion criteria provided	Pathogenic (Jan 1, 1997)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 7485167, 9375853

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021016

OMIM

no assertion criteria provided

Pathogenic
(Jan 1, 1997)

germline

literature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Severe Gardner syndrome in families with mutations restricted to a specific region of the APC gene.

Davies DR, Armstrong JG, Thakker N, Horner K, Guy SP, Clancy T, Sloan P, Blair V, Dodd C, Warnes TW, et al.

Am J Hum Genet. 1995 Nov;57(5):1151-8.

PubMed [citation]

PMID:: 7485167
PMCID:: PMC1801370

APC mutations in familial adenomatous polyposis families in the Northwest of England.

Armstrong JG, Davies DR, Guy SP, Frayling IM, Evans DG.

Hum Mutat. 1997;10(5):376-80.

PubMed [citation]

PMID:: 9375853

Details of each submission

From OMIM, SCV000021016.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (2)

Description

In 2 previously reported patients with severe Gardner phenotype (see 175100) (Davies et al., 1995), Armstrong et al. (1997) identified a 2-bp deletion (1538delAG) in the APC gene, resulting in a frameshift and premature termination. The patients were of different ethnic backgrounds and had different haplotypes, suggesting that the same mutation had arisen in 2 separate populations.

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

Last Updated: Apr 15, 2024

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