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NM_000038.6(APC):c.-19+45G>A AND Familial adenomatous polyposis 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
May 28, 2019
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:
RCV000987547.1

Allele description [Variation Report for NM_000038.6(APC):c.-19+45G>A]

NM_000038.6(APC):c.-19+45G>A

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.-19+45G>A
HGVS:
  • NC_000005.10:g.112737970G>A
  • NG_008481.4:g.50450G>A
  • NM_000038.6:c.-19+45G>AMANE SELECT
  • NM_001127510.3:c.-127+45G>A
  • NM_001127511.3:c.166-28356G>A
  • NM_001354895.2:c.-18-16903G>A
  • NM_001354896.2:c.-19+45G>A
  • NM_001354897.2:c.166-28356G>A
  • NM_001354898.2:c.-49+45G>A
  • NM_001354899.2:c.-19+45G>A
  • NM_001354900.2:c.-43+45G>A
  • NM_001354901.2:c.-43+45G>A
  • NM_001354902.2:c.166-28356G>A
  • NM_001354903.2:c.-19+45G>A
  • NM_001354904.2:c.-49+45G>A
  • NM_001354905.2:c.-43+45G>A
  • NM_001354906.2:c.-1054+45G>A
  • LRG_130:g.50450G>A
  • NC_000005.9:g.112073667G>A
  • NM_000038.5:c.-19+45G>A
Links:
dbSNP: rs370011472
NCBI 1000 Genomes Browser:
rs370011472
Molecular consequence:
  • NM_000038.6:c.-19+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127510.3:c.-127+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127511.3:c.166-28356G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354895.2:c.-18-16903G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354896.2:c.-19+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354897.2:c.166-28356G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354898.2:c.-49+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354899.2:c.-19+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354900.2:c.-43+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354901.2:c.-43+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354902.2:c.166-28356G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354903.2:c.-19+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354904.2:c.-49+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354905.2:c.-43+45G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354906.2:c.-1054+45G>A - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Familial adenomatous polyposis 1 (FAP1)
Synonyms:
POLYPOSIS, ADENOMATOUS INTESTINAL; FAMILIAL ADENOMATOUS POLYPOSIS 1, ATTENUATED; APC-Associated Polyposis Conditions
Identifiers:
MONDO: MONDO:0021056; MedGen: C2713442; OMIM: 175100

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001136866Mendelics
criteria provided, single submitter

(Mendelics Assertion Criteria 2017)		Likely benign
(May 28, 2019) 		unknownclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001136866.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023