U.S. flag

An official website of the United States government

NM_000038.6(APC):c.301G>T (p.Gly101Ter) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2021
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:
RCV000570097.9

Allele description

NM_000038.6(APC):c.301G>T (p.Gly101Ter)

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.301G>T (p.Gly101Ter)
HGVS:
  • NC_000005.10:g.112767269G>T
  • NG_008481.4:g.79749G>T
  • NM_000038.6:c.301G>TMANE SELECT
  • NM_001127510.3:c.301G>T
  • NM_001127511.3:c.331G>T
  • NM_001354895.2:c.301G>T
  • NM_001354896.2:c.301G>T
  • NM_001354897.2:c.331G>T
  • NM_001354898.2:c.226G>T
  • NM_001354899.2:c.301G>T
  • NM_001354900.2:c.124G>T
  • NM_001354901.2:c.124G>T
  • NM_001354902.2:c.331G>T
  • NM_001354903.2:c.301G>T
  • NM_001354904.2:c.226G>T
  • NM_001354905.2:c.124G>T
  • NM_001354906.2:c.-735G>T
  • NP_000029.2:p.Gly101Ter
  • NP_001120982.1:p.Gly101Ter
  • NP_001120983.2:p.Gly111Ter
  • NP_001341824.1:p.Gly101Ter
  • NP_001341825.1:p.Gly101Ter
  • NP_001341826.1:p.Gly111Ter
  • NP_001341827.1:p.Gly76Ter
  • NP_001341828.1:p.Gly101Ter
  • NP_001341829.1:p.Gly42Ter
  • NP_001341830.1:p.Gly42Ter
  • NP_001341831.1:p.Gly111Ter
  • NP_001341832.1:p.Gly101Ter
  • NP_001341833.1:p.Gly76Ter
  • NP_001341834.1:p.Gly42Ter
  • LRG_130:g.79749G>T
  • NC_000005.9:g.112102966G>T
  • NM_000038.5:c.301G>T
Protein change:
G101*
Links:
dbSNP: rs863225335
NCBI 1000 Genomes Browser:
rs863225335
Molecular consequence:
  • NM_001354906.2:c.-735G>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000038.6:c.301G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127510.3:c.301G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127511.3:c.331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354895.2:c.301G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354896.2:c.301G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354897.2:c.331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354898.2:c.226G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354899.2:c.301G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354900.2:c.124G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354901.2:c.124G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354902.2:c.331G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354903.2:c.301G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354904.2:c.226G>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354905.2:c.124G>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000667317Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Oct 1, 2021) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Citations

PubMed

APC germline mutations in individuals being evaluated for familial adenomatous polyposis: a review of the Mayo Clinic experience with 1591 consecutive tests.

Kerr SE, Thomas CB, Thibodeau SN, Ferber MJ, Halling KC.

J Mol Diagn. 2013 Jan;15(1):31-43. doi: 10.1016/j.jmoldx.2012.07.005. Epub 2012 Nov 14. Review.

PubMed [citation]
PMID:
23159591

Rapid RT-PCR-based protein truncation test in the screening for 5' located mutations of the APC gene.

Kraus C, Günther K, Vogler A, Hohenberger W, Pfeiffer RA, Ballhausen WG.

Mol Cell Probes. 1998 Jun;12(3):143-7.

PubMed [citation]
PMID:
9664575

Details of each submission

From Ambry Genetics, SCV000667317.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (2)

Description

The p.G101* pathogenic mutation (also known as c.301G>T), located in coding exon 3 of the APC gene, results from a G to T substitution at nucleotide position 301. This changes the amino acid from a glycine to a stop codon within coding exon 3. This alteration has been reported in familial adenomatous polyposis patients (Kraus C et al. Mol Cell Probes, 1998 Jun;12:143-7; Kerr SE et al. J Mol Diagn, 2013 Jan;15:31-43). In addition to the clinical data presented in the literature, this alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Apr 20, 2024