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

Clinical significance:Likely benign (Last evaluated: Jun 1, 2014)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000148359.2

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]

Condition(s)

Name:
Colorectal adenoma
Identifiers:
MONDO: MONDO:0005484; MedGen: C1302401

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000190049CSER _CC_NCGL, University of Washington - ESP 6500 variant annotationno assertion criteria providedLikely benign
(Jun 1, 2014)
germlineresearch

Description

Variants classified for the Actionable exomic incidental findings in 6503 participants: challenges of variant classification manuscript

SCV000190049

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedresearch

Details of each submission

From CSER _CC_NCGL, University of Washington - ESP 6500 variant annotation, SCV000190049.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 6, 2021

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