NM_000038.6(APC):c.5942del (p.Asn1981fs) AND Familial adenomatous polyposis 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 1996
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:: RCV000000862.5

Allele description [Variation Report for NM_000038.6(APC):c.5942del (p.Asn1981fs)]

NM_000038.6(APC):c.5942del (p.Asn1981fs)

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.5942del (p.Asn1981fs)

HGVS:

NC_000005.10:g.112841536del
NG_008481.4:g.154016del
NM_000038.6:c.5942delMANE SELECT
NM_001127510.3:c.5942del
NM_001127511.3:c.5888del
NM_001354895.2:c.5942del
NM_001354896.2:c.5996del
NM_001354897.2:c.5972del
NM_001354898.2:c.5867del
NM_001354899.2:c.5858del
NM_001354900.2:c.5819del
NM_001354901.2:c.5765del
NM_001354902.2:c.5669del
NM_001354903.2:c.5639del
NM_001354904.2:c.5564del
NM_001354905.2:c.5462del
NM_001354906.2:c.5093del
NP_000029.2:p.Asn1981fs
NP_001120982.1:p.Asn1981fs
NP_001120983.2:p.Asn1963fs
NP_001341824.1:p.Asn1981fs
NP_001341825.1:p.Asn1999fs
NP_001341826.1:p.Asn1991fs
NP_001341827.1:p.Asn1956fs
NP_001341828.1:p.Asn1953fs
NP_001341829.1:p.Asn1940fs
NP_001341830.1:p.Asn1922fs
NP_001341831.1:p.Asn1890fs
NP_001341832.1:p.Asn1880fs
NP_001341833.1:p.Asn1855fs
NP_001341834.1:p.Asn1821fs
NP_001341835.1:p.Asn1698fs
LRG_130t1:c.5942del
LRG_130:g.154016del
NC_000005.9:g.112177233del
NM_000038.4:c.5942del

Note:

NCBI staff reviewed the sequence information reported in PubMed 7797123 to determine the location of this allele on current reference sequence.

Protein change:

N1698fs

Links:

OMIM: 611731.0027; OMIM: 611731.0037; dbSNP: rs397509433

NCBI 1000 Genomes Browser:

rs397509433

Molecular consequence:

NM_000038.6:c.5942del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127510.3:c.5942del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127511.3:c.5888del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354895.2:c.5942del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354896.2:c.5996del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354897.2:c.5972del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354898.2:c.5867del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354899.2:c.5858del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354900.2:c.5819del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354901.2:c.5765del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354902.2:c.5669del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354903.2:c.5639del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354904.2:c.5564del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354905.2:c.5462del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354906.2:c.5093del - 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

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000021012	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 1996)	germline	literature only	PubMed (2) [See all records that cite these PMIDs] 8931709, 7797123

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000021012

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 1996)

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

Germline mutations in the 3' part of APC exon 15 do not result in truncated proteins and are associated with attenuated adenomatous polyposis coli.

van der Luijt RB, Meera Khan P, Vasen HF, Breukel C, Tops CM, Scott RJ, Fodde R.

Hum Genet. 1996 Dec;98(6):727-34.

PubMed [citation]

PMID:: 8931709

Novel germline APC gene mutation in a large familial adenomatous polyposis kindred displaying variable phenotypes.

Scott RJ, van der Luijt R, Spycher M, Mary JL, Müller A, Hoppeler T, Haner M, Müller H, Martinoli S, Brazzola PL, et al.

Gut. 1995 May;36(5):731-6. Erratum in: Gut. 1996 May;38(5):794..

PubMed [citation]

PMID:: 7797123
PMCID:: PMC1382678

Details of each submission

From OMIM, SCV000021012.2

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

Description

In affected members of a large family with FAP1 (175100), Scott et al. (1995) identified a 1-bp deletion (5960delA) in codon 1987 of the APC gene, resulting in a frameshift and premature termination 61 codons downstream. The mutation was in the 3-prime end of exon 15 in the 3-prime region of the APC gene. Affected family members showed a highly variable phenotype, with both severe disease with extracolonic manifestations and mild disease.

Van der Luijt et al. (1996) did not detect a truncated APC protein in cells from the family reported by Scott et al. (1995).

#	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

ClinVar

Relating variation to medicine