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NM_000038.5(APC):c.4732T>G (p.Cys1578Gly) AND Hereditary cancer-predisposing syndrome

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Apr 12, 2017
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:
RCV000129037.4

Allele description

NM_000038.5(APC):c.4732T>G (p.Cys1578Gly)

Gene:
APC:APC, WNT signaling pathway regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.5(APC):c.4732T>G (p.Cys1578Gly)
HGVS:
  • NC_000005.10:g.112840326T>G
  • NG_008481.4:g.152806T>G
  • NM_000038.5:c.4732T>G
  • NM_001127510.2:c.4732T>G
  • NM_001127511.2:c.4678T>G
  • NP_000029.2:p.Cys1578Gly
  • NP_001120982.1:p.Cys1578Gly
  • NP_001120983.2:p.Cys1560Gly
  • LRG_130:g.152806T>G
  • LRG_130p1:p.Cys1578Gly
  • LRG_130p2:p.Cys1578Gly
  • NC_000005.9:g.112176023T>G
  • p.C1578G
Protein change:
C1560G
Links:
dbSNP: rs138367627
NCBI 1000 Genomes Browser:
rs138367627
Molecular consequence:
  • NM_000038.5:c.4732T>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition
Identifiers:
MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000172947Ambry Genetics
criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (3/2017))		Likely pathogenic
(Apr 12, 2017) 		germlineclinical testing

PubMed (3)
[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

Multiple rare nonsynonymous variants in the adenomatous polyposis coli gene predispose to colorectal adenomas.

Azzopardi D, Dallosso AR, Eliason K, Hendrickson BC, Jones N, Rawstorne E, Colley J, Moskvina V, Frye C, Sampson JR, Wenstrup R, Scholl T, Cheadle JP.

Cancer Res. 2008 Jan 15;68(2):358-63. doi: 10.1158/0008-5472.CAN-07-5733.

PubMed [citation]
PMID:
18199528

Messing up disorder: how do missense mutations in the tumor suppressor protein APC lead to cancer?

Minde DP, Anvarian Z, Rüdiger SG, Maurice MM.

Mol Cancer. 2011 Aug 22;10:101. doi: 10.1186/1476-4598-10-101. Review.

PubMed [citation]
PMID:
21859464
PMCID:
PMC3170638
See all PubMed Citations (3)

Details of each submission

From Ambry Genetics, SCV000172947.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (3)

Description

Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,Structural Evidence

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

Last Updated: Oct 10, 2018