NM_000038.6(APC):c.6985A>G (p.Ile2329Val) AND Hereditary cancer-predisposing syndrome

Clinical significance:Likely benign (Last evaluated: Jan 8, 2019)

Review status:2 stars out of maximum of 4 stars

criteria provided, multiple submitters, no conflicts

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000131625.9

Allele description [Variation Report for NM_000038.6(APC):c.6985A>G (p.Ile2329Val)]

NM_000038.6(APC):c.6985A>G (p.Ile2329Val)

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.6985A>G (p.Ile2329Val)
Other names:
p.I2329V:ATT>GTT
HGVS:
  • NC_000005.10:g.112842579A>G
  • NG_008481.4:g.155059A>G
  • NM_000038.6:c.6985A>GMANE SELECT
  • NM_001127510.3:c.6985A>G
  • NM_001127511.3:c.6931A>G
  • NM_001354895.2:c.6985A>G
  • NM_001354896.2:c.7039A>G
  • NM_001354897.2:c.7015A>G
  • NM_001354898.2:c.6910A>G
  • NM_001354899.2:c.6901A>G
  • NM_001354900.2:c.6862A>G
  • NM_001354901.2:c.6808A>G
  • NM_001354902.2:c.6712A>G
  • NM_001354903.2:c.6682A>G
  • NM_001354904.2:c.6607A>G
  • NM_001354905.2:c.6505A>G
  • NM_001354906.2:c.6136A>G
  • NP_000029.2:p.Ile2329Val
  • NP_001120982.1:p.Ile2329Val
  • NP_001120983.2:p.Ile2311Val
  • NP_001341824.1:p.Ile2329Val
  • NP_001341825.1:p.Ile2347Val
  • NP_001341826.1:p.Ile2339Val
  • NP_001341827.1:p.Ile2304Val
  • NP_001341828.1:p.Ile2301Val
  • NP_001341829.1:p.Ile2288Val
  • NP_001341830.1:p.Ile2270Val
  • NP_001341831.1:p.Ile2238Val
  • NP_001341832.1:p.Ile2228Val
  • NP_001341833.1:p.Ile2203Val
  • NP_001341834.1:p.Ile2169Val
  • NP_001341835.1:p.Ile2046Val
  • LRG_130:g.155059A>G
  • NC_000005.9:g.112178276A>G
  • NM_000038.5:c.6985A>G
  • p.I2329V
Protein change:
I2046V
Links:
dbSNP: rs146048493
NCBI 1000 Genomes Browser:
rs146048493
Molecular consequence:
  • NM_000038.6:c.6985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127510.3:c.6985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127511.3:c.6931A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354895.2:c.6985A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354896.2:c.7039A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.7015A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354898.2:c.6910A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354899.2:c.6901A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354900.2:c.6862A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354901.2:c.6808A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.6712A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354903.2:c.6682A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354904.2:c.6607A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354905.2:c.6505A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354906.2:c.6136A>G - missense variant - [Sequence Ontology: SO:0001583]
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; MedGen: C0027672

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000186647Ambry Geneticscriteria provided, single submitter
Likely benign
(Jan 8, 2019)
germlineclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link,

SCV000910576Color Health, Inccriteria provided, single submitter
Likely benign
(May 28, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

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, RĂ¼diger 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 (4)

Details of each submission

From Ambry Genetics, SCV000186647.6

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

Description

Co-occurence with mutation in same gene (phase unknown);In silico models in agreement (benign);Subpopulation frequency in support of benign classification

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

From Color Health, Inc, SCV000910576.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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