NM_000038.6(APC):c.4732T>G (p.Cys1578Gly) AND Colorectal adenoma

Clinical significance:Uncertain significance (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:
RCV000148367.2

Allele description [Variation Report for NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)]

NM_000038.6(APC):c.4732T>G (p.Cys1578Gly)

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.4732T>G (p.Cys1578Gly)
HGVS:
  • NC_000005.10:g.112840326T>G
  • NG_008481.4:g.152806T>G
  • NM_000038.6:c.4732T>GMANE SELECT
  • NM_001127510.3:c.4732T>G
  • NM_001127511.3:c.4678T>G
  • NM_001354895.2:c.4732T>G
  • NM_001354896.2:c.4786T>G
  • NM_001354897.2:c.4762T>G
  • NM_001354898.2:c.4657T>G
  • NM_001354899.2:c.4648T>G
  • NM_001354900.2:c.4609T>G
  • NM_001354901.2:c.4555T>G
  • NM_001354902.2:c.4459T>G
  • NM_001354903.2:c.4429T>G
  • NM_001354904.2:c.4354T>G
  • NM_001354905.2:c.4252T>G
  • NM_001354906.2:c.3883T>G
  • NP_000029.2:p.Cys1578Gly
  • NP_001120982.1:p.Cys1578Gly
  • NP_001120983.2:p.Cys1560Gly
  • NP_001341824.1:p.Cys1578Gly
  • NP_001341825.1:p.Cys1596Gly
  • NP_001341826.1:p.Cys1588Gly
  • NP_001341827.1:p.Cys1553Gly
  • NP_001341828.1:p.Cys1550Gly
  • NP_001341829.1:p.Cys1537Gly
  • NP_001341830.1:p.Cys1519Gly
  • NP_001341831.1:p.Cys1487Gly
  • NP_001341832.1:p.Cys1477Gly
  • NP_001341833.1:p.Cys1452Gly
  • NP_001341834.1:p.Cys1418Gly
  • NP_001341835.1:p.Cys1295Gly
  • LRG_130:g.152806T>G
  • NC_000005.9:g.112176023T>G
  • NM_000038.5:c.4732T>G
  • NM_001127510.2:c.4732T>G
  • p.C1578G
Protein change:
C1295G
Links:
dbSNP: rs138367627
NCBI 1000 Genomes Browser:
rs138367627
Molecular consequence:
  • NM_000038.6:c.4732T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127510.3:c.4732T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127511.3:c.4678T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354895.2:c.4732T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354896.2:c.4786T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354897.2:c.4762T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354898.2:c.4657T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354899.2:c.4648T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354900.2:c.4609T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354901.2:c.4555T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354902.2:c.4459T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354903.2:c.4429T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354904.2:c.4354T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354905.2:c.4252T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354906.2:c.3883T>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
SCV000190059CSER _CC_NCGL, University of Washington - ESP 6500 variant annotationno assertion criteria providedUncertain significance
(Jun 1, 2014)
germlineresearch

Description

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

SCV000190059

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, SCV000190059.1

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

Last Updated: Nov 27, 2021

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