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NM_000038.6(APC):c.532-8G>A AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 16, 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:
RCV000491376.11

Allele description [Variation Report for NM_000038.6(APC):c.532-8G>A]

NM_000038.6(APC):c.532-8G>A

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.532-8G>A
HGVS:
  • NC_000005.10:g.112780782G>A
  • NG_008481.4:g.93262G>A
  • NM_000038.6:c.532-8G>AMANE SELECT
  • NM_001127510.3:c.532-8G>A
  • NM_001127511.3:c.562-8G>A
  • NM_001354895.2:c.532-8G>A
  • NM_001354896.2:c.532-8G>A
  • NM_001354897.2:c.562-8G>A
  • NM_001354898.2:c.457-8G>A
  • NM_001354899.2:c.532-8G>A
  • NM_001354900.2:c.355-8G>A
  • NM_001354901.2:c.355-8G>A
  • NM_001354902.2:c.562-8G>A
  • NM_001354903.2:c.532-8G>A
  • NM_001354904.2:c.457-8G>A
  • NM_001354905.2:c.355-8G>A
  • NM_001354906.2:c.-504-8G>A
  • LRG_130:g.93262G>A
  • NC_000005.9:g.112116479G>A
  • NM_000038.5:c.532-8G>A
Links:
dbSNP: rs1060503323
NCBI 1000 Genomes Browser:
rs1060503323
Molecular consequence:
  • NM_000038.6:c.532-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127510.3:c.532-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127511.3:c.562-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354895.2:c.532-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354896.2:c.532-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354897.2:c.562-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354898.2:c.457-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354899.2:c.532-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354900.2:c.355-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354901.2:c.355-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354902.2:c.562-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354903.2:c.532-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354904.2:c.457-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354905.2:c.355-8G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354906.2:c.-504-8G>A - intron variant - [Sequence Ontology: SO:0001627]

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

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000579793Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Pathogenic
(Sep 16, 2015) 		germlineclinical testing

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Analysis of rare APC variants at the mRNA level: six pathogenic mutations and literature review.

Kaufmann A, Vogt S, Uhlhaas S, Stienen D, Kurth I, Hameister H, Mangold E, Kötting J, Kaminsky E, Propping P, Friedl W, Aretz S.

J Mol Diagn. 2009 Mar;11(2):131-9. doi: 10.2353/jmoldx.2009.080129. Epub 2009 Feb 5. Review.

PubMed [citation]
PMID:
19196998
PMCID:
PMC2665862

The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variations.

Grandval P, Blayau M, Buisine MP, Coulet F, Maugard C, Pinson S, Remenieras A, Tinat J, Uhrhammer N, Béroud C, Olschwang S.

Hum Mutat. 2014 May;35(5):532-6. doi: 10.1002/humu.22539. Epub 2014 Apr 7.

PubMed [citation]
PMID:
24599579

Details of each submission

From Ambry Genetics, SCV000579793.6

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

Description

The c.532-8G>A intronic pathogenic mutation results from a G to A substitution 8 nucleotides before coding exon 5 in the APC gene. This mutation has been reported in an individual diagnosed with classic FAP at the age of 20 (Kaufamnn A et al. J Mol Diagn. 2009 Mar;11(2):131-9). In addition, in vivo and in vitro evidence demonstrated this alteration results in the creation of a new acceptor splice site leading to the inclusion of 6 additional intronic nucleotides encoding for a premature stop codon at codon 179 (p.S179X) (Kaufamnn A et al. J Mol Diagn. 2009 Mar;11(2):131-9; Grandval P, et al. Hum. Mutat. 2014 May; 35(5):532-6). This alteration was not reported in population-based cohorts in the following databases: Database of Single Nucleotide Polymorphisms (dbSNP), NHLBI Exome Sequencing Project (ESP) and 1000 Genomes Project. Based on nucleotide sequence alignment, this position is highly conserved in available vertebrate species. Based on the available evidence, c.532-8G>A is classified as a pathogenic mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 1, 2024