NM_000038.6(APC):c.1369del (p.Ser457fs) AND Familial adenomatous polyposis 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 4, 2013
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:: RCV000000831.1

Allele description

NM_000038.6(APC):c.1369del (p.Ser457fs)

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.1369del (p.Ser457fs)

HGVS:

NC_000005.10:g.112821952del
NG_008481.4:g.134432del
NM_000038.6:c.1369delMANE SELECT
NM_001127510.3:c.1369del
NM_001127511.3:c.1315del
NM_001354895.2:c.1369del
NM_001354896.2:c.1369del
NM_001354897.2:c.1399del
NM_001354898.2:c.1294del
NM_001354899.2:c.1285del
NM_001354900.2:c.1192del
NM_001354901.2:c.1192del
NM_001354902.2:c.1096del
NM_001354903.2:c.1066del
NM_001354904.2:c.991del
NM_001354905.2:c.889del
NM_001354906.2:c.520del
NP_000029.2:p.Ser457fs
NP_001120982.1:p.Ser457fs
NP_001120983.2:p.Ser439fs
NP_001341824.1:p.Ser457fs
NP_001341825.1:p.Ser457fs
NP_001341826.1:p.Ser467fs
NP_001341827.1:p.Ser432fs
NP_001341828.1:p.Ser429fs
NP_001341829.1:p.Ser398fs
NP_001341830.1:p.Ser398fs
NP_001341831.1:p.Ser366fs
NP_001341832.1:p.Ser356fs
NP_001341833.1:p.Ser331fs
NP_001341834.1:p.Ser297fs
NP_001341835.1:p.Ser174fs
LRG_130t1:c.1369del
LRG_130t2:c.1369del
LRG_130:g.134432del
NC_000005.9:g.112157649del
NM_000038.4:c.1369del
NM_001127510.1:c.1369del

Protein change:

S174fs

Links:

OMIM: 611731.0003; dbSNP: rs387906229

NCBI 1000 Genomes Browser:

rs387906229

Molecular consequence:

NM_000038.6:c.1369del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127510.3:c.1369del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127511.3:c.1315del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354895.2:c.1369del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354896.2:c.1369del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354897.2:c.1399del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354898.2:c.1294del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354899.2:c.1285del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354900.2:c.1192del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354901.2:c.1192del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354902.2:c.1096del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354903.2:c.1066del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354904.2:c.991del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354905.2:c.889del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354906.2:c.520del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000020981	OMIM	no assertion criteria provided	Pathogenic (Apr 4, 2013)	germline	literature only	Groden, J., Thliveris, A., Samowitz, W., Carlson, M., Gelbert, L., Albertsen, H., Joslyn, G., Stevens, J., Spirio, L., Robertson, M., Sargeant, L., Krapcho, K., Wolff, E., Burt, R., Hughes, J. P., Warrington, J., McPherson, J., Wasmuth, J., Le Paslier, D., Abderrahim, H., Cohen, D., Leppert, M., White, R. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66: 589-600, 1991.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000020981

OMIM

no assertion criteria provided

Pathogenic
(Apr 4, 2013)

germline

literature only

Groden, J., Thliveris, A., Samowitz, W., Carlson, M., Gelbert, L., Albertsen, H., Joslyn, G., Stevens, J., Spirio, L., Robertson, M., Sargeant, L., Krapcho, K., Wolff, E., Burt, R., Hughes, J. P., Warrington, J., McPherson, J., Wasmuth, J., Le Paslier, D., Abderrahim, H., Cohen, D., Leppert, M., White, R. Identification and characterization of the familial adenomatous polyposis coli gene. Cell 66: 589-600, 1991.

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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

Details of each submission

From OMIM, SCV000020981.1

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

Description

In a patient with familial adenomatous polyposis-1 (175100), Groden et al. (1991) identified a heterozygous 1-bp deletion in exon 10 of the APC gene, resulting in a frameshift and truncation of the protein within 30 bases.

#	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: Nov 5, 2022

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