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NM_000038.6(APC):c.2547T>C (p.Asp849=) AND APC-Associated Polyposis Disorders

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 27, 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:
RCV001157041.12

Allele description [Variation Report for NM_000038.6(APC):c.2547T>C (p.Asp849=)]

NM_000038.6(APC):c.2547T>C (p.Asp849=)

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.2547T>C (p.Asp849=)
HGVS:
  • NC_000005.10:g.112838141T>C
  • NG_008481.4:g.150621T>C
  • NM_000038.6:c.2547T>CMANE SELECT
  • NM_001127510.3:c.2547T>C
  • NM_001127511.3:c.2493T>C
  • NM_001354895.2:c.2547T>C
  • NM_001354896.2:c.2601T>C
  • NM_001354897.2:c.2577T>C
  • NM_001354898.2:c.2472T>C
  • NM_001354899.2:c.2463T>C
  • NM_001354900.2:c.2424T>C
  • NM_001354901.2:c.2370T>C
  • NM_001354902.2:c.2274T>C
  • NM_001354903.2:c.2244T>C
  • NM_001354904.2:c.2169T>C
  • NM_001354905.2:c.2067T>C
  • NM_001354906.2:c.1698T>C
  • NP_000029.2:p.Asp849=
  • NP_001120982.1:p.Asp849=
  • NP_001120983.2:p.Asp831=
  • NP_001341824.1:p.Asp849=
  • NP_001341825.1:p.Asp867=
  • NP_001341826.1:p.Asp859=
  • NP_001341827.1:p.Asp824=
  • NP_001341828.1:p.Asp821=
  • NP_001341829.1:p.Asp808=
  • NP_001341830.1:p.Asp790=
  • NP_001341831.1:p.Asp758=
  • NP_001341832.1:p.Asp748=
  • NP_001341833.1:p.Asp723=
  • NP_001341834.1:p.Asp689=
  • NP_001341835.1:p.Asp566=
  • LRG_130:g.150621T>C
  • NC_000005.9:g.112173838T>C
  • NM_000038.5:c.2547T>C
Links:
dbSNP: rs766086010
NCBI 1000 Genomes Browser:
rs766086010
Molecular consequence:
  • NM_000038.6:c.2547T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127510.3:c.2547T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001127511.3:c.2493T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354895.2:c.2547T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354896.2:c.2601T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354897.2:c.2577T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354898.2:c.2472T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354899.2:c.2463T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354900.2:c.2424T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354901.2:c.2370T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354902.2:c.2274T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354903.2:c.2244T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354904.2:c.2169T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354905.2:c.2067T>C - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001354906.2:c.1698T>C - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
APC-Associated Polyposis Disorders
Identifiers:
MedGen: CN239210

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001318587Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification Criteria 13 December 2019)		Uncertain significance
(Apr 27, 2017) 		germlineclinical testing

PubMed (5)
[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

Eleven novel germline mutations in the adenomatous polyposis coli (APC) gene.

Paffenholz R, Mandl M, Caspari R, Sengteller M, Propping P, Friedl W.

Hum Mol Genet. 1994 Sep;3(9):1703-4. No abstract available.

PubMed [citation]
PMID:
7833936

Can APC mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families.

Friedl W, Caspari R, Sengteller M, Uhlhaas S, Lamberti C, Jungck M, Kadmon M, Wolf M, Fahnenstich J, Gebert J, Möslein G, Mangold E, Propping P.

Gut. 2001 Apr;48(4):515-21.

PubMed [citation]
PMID:
11247896
PMCID:
PMC1728231
See all PubMed Citations (5)

Details of each submission

From Illumina Laboratory Services, Illumina, SCV001318587.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (5)

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.

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

Last Updated: Feb 25, 2025