• replaced

NM_000038.5(APC):c.2805C>A (p.Tyr935Ter) AND Familial multiple polyposis syndrome

Clinical significance:Pathogenic (Last evaluated: Jan 27, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000035069.2

Allele description

NM_000038.5(APC):c.2805C>A (p.Tyr935Ter)

Gene:
APC:adenomatous polyposis coli [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.5(APC):c.2805C>A (p.Tyr935Ter)
HGVS:
  • NC_000005.10:g.112838399C>A
  • NG_008481.4:g.150879C>A
  • NM_000038.5:c.2805C>A
  • NM_001127510.2:c.2805C>A
  • NM_001127511.2:c.2751C>A
  • NP_000029.2:p.Tyr935Ter
  • NP_001120982.1:p.Tyr935Ter
  • NP_001120983.2:p.Tyr917Ter
  • LRG_130:g.150879C>A
  • LRG_130p1:p.Tyr935Ter
  • LRG_130p2:p.Tyr935Ter
  • NC_000005.9:g.112174096C>A
  • NM_000038.4:c.2805C>A
  • c.2805C>A
  • p.Tyr935X
  • p.Y935*
  • p.Y935*:TAC>TAA
Protein change:
Y917*; TYR935TER
Links:
OMIM: 611731.0018; dbSNP: 137854575
GMAF:
0.0004(T), 137854575
NCBI 1000 Genomes Browser:
rs137854575
Molecular consequence:
  • NM_000038.5:c.2805C>A - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Name:
Familial multiple polyposis syndrome (FAP1)
Synonyms:
Familial adenomatous polyposis
Identifiers:
MedGen: C0032580

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000058709Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicinecriteria provided, single submitter
Pathogenic
(Jan 27, 2014)
germlineclinical testing

PubMed (17)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot provided22not providednot providednot providedclinical testing

Citations

PubMed

Mutations of APC and MYH in unrelated Italian patients with adenomatous polyposis coli.

Aceto G, Curia MC, Veschi S, De Lellis L, Mammarella S, Catalano T, Stuppia L, Palka G, Valanzano R, Tonelli F, Casale V, Stigliano V, Cetta F, Battista P, Mariani-Costantini R, Cama A.

Hum Mutat. 2005 Oct;26(4):394.

PubMed [citation]
PMID:
16134147

APC mutation spectrum of Norwegian familial adenomatous polyposis families: high ratio of novel mutations.

Andresen PA, Heimdal K, Aaberg K, Eklo K, Ariansen S, Silye A, Fausa O, Aabakken L, Aretz S, Eide TJ, Gedde-Dahl T Jr.

J Cancer Res Clin Oncol. 2009 Oct;135(10):1463-70. doi: 10.1007/s00432-009-0594-4. Epub 2009 May 15. Erratum in: J Cancer Res Clin Oncol. 2009 Oct;135(10):1471. Eklo, Kristin [corrected to Eklo, Katrine].

PubMed [citation]
PMID:
19444466
See all PubMed Citations (17)

Details of each submission

From Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine, SCV000058709.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided2not providednot providedclinical testing PubMed (17)

Description

The Tyr935X variant in APC has been reported in >20 individuals with FAP, segregated with disease in at least 12 affected family members (see references), and was absent from large population studies (rs137854575). This nonsense variant leads to a premature termination codon at position 935, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the APC gene is an established disease mechanism in individuals with FAP. In summary, this variant meets our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM) based upon segregation studies and absence from controls.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot provided2not provided2not provided

Last Updated: Apr 20, 2016