NM_000038.6(APC):c.904C>T (p.Arg302Ter) AND Colorectal cancer, susceptibility to

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 20, 2015
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:: RCV000210154.10

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]

Observations:

Condition(s)

Name:: Colorectal cancer, susceptibility to
Identifiers:: MedGen: C1858438

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000266010	University of Washington Department of Laboratory Medicine, University of Washington	criteria provided, single submitter (Shirts et al. (Genet Med 2016))	Pathogenic (Nov 20, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000266010

University of Washington Department of Laboratory Medicine, University of Washington

criteria provided, single submitter

(Shirts et al. (Genet Med 2016))

Pathogenic
(Nov 20, 2015)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	no	1	not provided	not provided	1	not provided	clinical testing

Citations

PubMed

Improving performance of multigene panels for genomic analysis of cancer predisposition.

Shirts BH, Casadei S, Jacobson AL, Lee MK, Gulsuner S, Bennett RL, Miller M, Hall SA, Hampel H, Hisama FM, Naylor LV, Goetsch C, Leppig K, Tait JF, Scroggins SM, Turner EH, Livingston R, Salipante SJ, King MC, Walsh T, Pritchard CC.

Genet Med. 2016 Oct;18(10):974-81. doi: 10.1038/gim.2015.212. Epub 2016 Feb 4.

PubMed [citation]

PMID:: 26845104

Details of each submission

From University of Washington Department of Laboratory Medicine, University of Washington, SCV000266010.1

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	no	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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