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NM_000038.6(APC):c.645+5030A>G AND Familial colorectal cancer

Germline classification:
other (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000073444.1

Allele description [Variation Report for NM_000038.6(APC):c.645+5030A>G]

NM_000038.6(APC):c.645+5030A>G

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.645+5030A>G
HGVS:
  • NC_000005.10:g.112785933A>G
  • NG_008481.4:g.98413A>G
  • NM_000038.6:c.645+5030A>GMANE SELECT
  • NM_001127510.3:c.645+5030A>G
  • NM_001127511.3:c.675+5030A>G
  • NM_001354895.2:c.645+5030A>G
  • NM_001354896.2:c.645+5030A>G
  • NM_001354897.2:c.675+5030A>G
  • NM_001354898.2:c.570+5030A>G
  • NM_001354899.2:c.645+5030A>G
  • NM_001354900.2:c.468+5030A>G
  • NM_001354901.2:c.468+5030A>G
  • NM_001354902.2:c.675+5030A>G
  • NM_001354903.2:c.645+5030A>G
  • NM_001354904.2:c.570+5030A>G
  • NM_001354905.2:c.468+5030A>G
  • NM_001354906.2:c.-391+5030A>G
  • LRG_130:g.98413A>G
  • NC_000005.8:g.112149529A>G
  • NC_000005.9:g.112121630A>G
Links:
dbSNP: rs74436805
NCBI 1000 Genomes Browser:
rs74436805
Molecular consequence:
  • NM_000038.6:c.645+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127510.3:c.645+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127511.3:c.675+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354895.2:c.645+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354896.2:c.645+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354897.2:c.675+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354898.2:c.570+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354899.2:c.645+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354900.2:c.468+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354901.2:c.468+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354902.2:c.675+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354903.2:c.645+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354904.2:c.570+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354905.2:c.468+5030A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354906.2:c.-391+5030A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Familial colorectal cancer
Identifiers:
MONDO: MONDO:0023113; MedGen: CN280943

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000105035Systems Biology Platform Zhejiang California International NanoSystems Institute
no assertion criteria provided
cancerunknownnot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Systems Biology Platform Zhejiang California International NanoSystems Institute, SCV000105035.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to other.

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

Last Updated: Jun 9, 2024