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NM_000038.6(APC):c.1313-9_1313-6dup AND Familial adenomatous polyposis 1

Germline classification:
Likely benign (1 submission)
Last evaluated:
Mar 1, 2024
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:
RCV004442537.1

Allele description

NM_000038.6(APC):c.1313-9_1313-6dup

Gene:
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.6(APC):c.1313-9_1313-6dup
HGVS:
  • NC_000005.10:g.112821887_112821890dup
  • NG_008481.4:g.134367_134370dup
  • NM_000038.6:c.1313-9_1313-6dupMANE SELECT
  • NM_001127510.3:c.1313-9_1313-6dup
  • NM_001127511.3:c.1259-9_1259-6dup
  • NM_001354895.2:c.1313-9_1313-6dup
  • NM_001354896.2:c.1313-9_1313-6dup
  • NM_001354897.2:c.1343-9_1343-6dup
  • NM_001354898.2:c.1238-9_1238-6dup
  • NM_001354899.2:c.1229-9_1229-6dup
  • NM_001354900.2:c.1136-9_1136-6dup
  • NM_001354901.2:c.1136-9_1136-6dup
  • NM_001354902.2:c.1040-9_1040-6dup
  • NM_001354903.2:c.1010-9_1010-6dup
  • NM_001354904.2:c.935-9_935-6dup
  • NM_001354905.2:c.833-9_833-6dup
  • NM_001354906.2:c.464-9_464-6dup
  • NM_001407446.1:c.1343-9_1343-6dup
  • NM_001407447.1:c.1313-9_1313-6dup
  • NM_001407448.1:c.1313-9_1313-6dup
  • NM_001407449.1:c.1313-9_1313-6dup
  • NM_001407450.1:c.1313-9_1313-6dup
  • NM_001407451.1:c.1238-9_1238-6dup
  • NM_001407452.1:c.1229-9_1229-6dup
  • NM_001407453.1:c.1136-9_1136-6dup
  • NM_001407454.1:c.1010-9_1010-6dup
  • NM_001407455.1:c.1010-9_1010-6dup
  • NM_001407456.1:c.1010-9_1010-6dup
  • NM_001407457.1:c.1010-9_1010-6dup
  • NM_001407458.1:c.1010-9_1010-6dup
  • NM_001407459.1:c.1010-9_1010-6dup
  • NM_001407460.1:c.1010-9_1010-6dup
  • NM_001407467.1:c.926-9_926-6dup
  • NM_001407469.1:c.926-9_926-6dup
  • NM_001407470.1:c.464-9_464-6dup
  • NM_001407471.1:c.161-9_161-6dup
  • NM_001407472.1:c.161-9_161-6dup
  • LRG_130:g.134367_134370dup
  • NC_000005.9:g.112157584_112157587dup
Molecular consequence:
  • NM_000038.6:c.1313-9_1313-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127510.3:c.1313-9_1313-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001127511.3:c.1259-9_1259-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354895.2:c.1313-9_1313-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354896.2:c.1313-9_1313-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354897.2:c.1343-9_1343-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354898.2:c.1238-9_1238-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354899.2:c.1229-9_1229-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354900.2:c.1136-9_1136-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354901.2:c.1136-9_1136-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354902.2:c.1040-9_1040-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354903.2:c.1010-9_1010-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354904.2:c.935-9_935-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354905.2:c.833-9_833-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001354906.2:c.464-9_464-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407446.1:c.1343-9_1343-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407447.1:c.1313-9_1313-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407448.1:c.1313-9_1313-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407449.1:c.1313-9_1313-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407450.1:c.1313-9_1313-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407451.1:c.1238-9_1238-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407452.1:c.1229-9_1229-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407453.1:c.1136-9_1136-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407454.1:c.1010-9_1010-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407455.1:c.1010-9_1010-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407456.1:c.1010-9_1010-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407457.1:c.1010-9_1010-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407458.1:c.1010-9_1010-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407459.1:c.1010-9_1010-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407460.1:c.1010-9_1010-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407467.1:c.926-9_926-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407469.1:c.926-9_926-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407470.1:c.464-9_464-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407471.1:c.161-9_161-6dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001407472.1:c.161-9_161-6dup - 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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004930799Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Likely benign
(Mar 1, 2024) 		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 Myriad Genetics, Inc., SCV004930799.1

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

Description

This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024