NM_000038.6(APC):c.904C>T (p.Arg302Ter) AND Gardner syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 30, 2006
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:: RCV000000835.12

Allele description [Variation Report for NM_000038.6(APC):c.904C>T (p.Arg302Ter)]

NM_000038.6(APC):c.904C>T (p.Arg302Ter)

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.904C>T (p.Arg302Ter)

HGVS:

NC_000005.10:g.112815564C>T
NG_008481.4:g.128044C>T
NM_000038.6:c.904C>TMANE SELECT
NM_001127510.3:c.904C>T
NM_001127511.3:c.850C>T
NM_001354895.2:c.904C>T
NM_001354896.2:c.904C>T
NM_001354897.2:c.934C>T
NM_001354898.2:c.829C>T
NM_001354899.2:c.820C>T
NM_001354900.2:c.727C>T
NM_001354901.2:c.727C>T
NM_001354902.2:c.934C>T
NM_001354903.2:c.904C>T
NM_001354904.2:c.829C>T
NM_001354905.2:c.727C>T
NM_001354906.2:c.55C>T
NP_000029.2:p.Arg302Ter
NP_001120982.1:p.Arg302Ter
NP_001120983.2:p.Arg284Ter
NP_001341824.1:p.Arg302Ter
NP_001341825.1:p.Arg302Ter
NP_001341826.1:p.Arg312Ter
NP_001341827.1:p.Arg277Ter
NP_001341828.1:p.Arg274Ter
NP_001341829.1:p.Arg243Ter
NP_001341830.1:p.Arg243Ter
NP_001341831.1:p.Arg312Ter
NP_001341832.1:p.Arg302Ter
NP_001341833.1:p.Arg277Ter
NP_001341834.1:p.Arg243Ter
NP_001341835.1:p.Arg19Ter
LRG_130:g.128044C>T
NC_000005.9:g.112151261C>T
NM_000038.5:c.904C>T
NP_000029.2:p.Arg302*
p.R302*

Protein change:

R19*; ARG302TER

Links:

OMIM: 611731.0002; OMIM: 611731.0006; dbSNP: rs137854568

NCBI 1000 Genomes Browser:

rs137854568

Molecular consequence:

NM_000038.6:c.904C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127510.3:c.904C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001127511.3:c.850C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354895.2:c.904C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354896.2:c.904C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354897.2:c.934C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354898.2:c.829C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354899.2:c.820C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354900.2:c.727C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354901.2:c.727C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354902.2:c.934C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354903.2:c.904C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354904.2:c.829C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354905.2:c.727C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001354906.2:c.55C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000020985	OMIM	no assertion criteria provided	Pathogenic (Nov 30, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID] Nishisho, I., Nakamura, Y., Miyoshi, Y., Miki, Y., Ando, H., Horii, A., Koyama, K., Utsunomiya, J., Baba, S., Hedge, P., Markham, A., Krush, A. J., Petersen, G., Hamilton, S. R., Nilbert, M. C., Levy, D. B., Bryan, T. M., Preisinger, A. C., Smith, K. J., Su, L.-K., Kinzler, K. W., Vogelstein, B. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253: 665-669, 1991.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020985

OMIM

no assertion criteria provided

Pathogenic
(Nov 30, 2006)

germline

literature only

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

Nishisho, I., Nakamura, Y., Miyoshi, Y., Miki, Y., Ando, H., Horii, A., Koyama, K., Utsunomiya, J., Baba, S., Hedge, P., Markham, A., Krush, A. J., Petersen, G., Hamilton, S. R., Nilbert, M. C., Levy, D. B., Bryan, T. M., Preisinger, A. C., Smith, K. J., Su, L.-K., Kinzler, K. W., Vogelstein, B. Mutations of chromosome 5q21 genes in FAP and colorectal cancer patients. Science 253: 665-669, 1991.

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

Case records of the Massachusetts General Hospital. Case 37-2006. A 19-year-old woman with thyroid cancer and lower gastrointestinal bleeding.

Chung DC, Maher MM, Faquin WC.

N Engl J Med. 2006 Nov 30;355(22):2349-57. No abstract available.

PubMed [citation]

PMID:: 17135589

Details of each submission

From OMIM, SCV000020985.4

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

Description

In 2 unrelated patients, a 46-year-old with FAP1 (175100) and a 27-year-old with Gardner syndrome manifest as polyposis with a desmoid tumor, Nishisho et al. (1991) identified a C-to-T transition in the APC gene, resulting in an arg302-to-ter (R302X) substitution. There was cosegregation of the mutation with the disease phenotype in multiple members of the FAP kindred. The findings suggested that the specific mutation does not completely specify the extracolonic manifestations of FAP, and that the phenotype is likely to be the result of other genetic or environmental influences.

Chung et al. (2006) identified a de novo R302X mutation in a 19-year-old woman with Gardner syndrome (see 175100) manifest as the cribriform-morular variant of papillary thyroid carcinoma, which had been discovered 8 months before the discovery of polyposis of the colon.

#	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: Sep 29, 2024

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