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NM_000038.6(APC):c.288T>G (p.Tyr96Ter) AND Familial adenomatous polyposis 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 25, 2023
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
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:
RCV002517324.9

Allele description [Variation Report for NM_000038.6(APC):c.288T>G (p.Tyr96Ter)]

NM_000038.6(APC):c.288T>G (p.Tyr96Ter)

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.288T>G (p.Tyr96Ter)
HGVS:
  • NC_000005.10:g.112767256T>G
  • NG_008481.4:g.79736T>G
  • NM_000038.6:c.288T>GMANE SELECT
  • NM_001127510.3:c.288T>G
  • NM_001127511.3:c.318T>G
  • NM_001354895.2:c.288T>G
  • NM_001354896.2:c.288T>G
  • NM_001354897.2:c.318T>G
  • NM_001354898.2:c.213T>G
  • NM_001354899.2:c.288T>G
  • NM_001354900.2:c.111T>G
  • NM_001354901.2:c.111T>G
  • NM_001354902.2:c.318T>G
  • NM_001354903.2:c.288T>G
  • NM_001354904.2:c.213T>G
  • NM_001354905.2:c.111T>G
  • NM_001354906.2:c.-748T>G
  • NP_000029.2:p.Tyr96Ter
  • NP_001120982.1:p.Tyr96Ter
  • NP_001120983.2:p.Tyr106Ter
  • NP_001341824.1:p.Tyr96Ter
  • NP_001341825.1:p.Tyr96Ter
  • NP_001341826.1:p.Tyr106Ter
  • NP_001341827.1:p.Tyr71Ter
  • NP_001341828.1:p.Tyr96Ter
  • NP_001341829.1:p.Tyr37Ter
  • NP_001341830.1:p.Tyr37Ter
  • NP_001341831.1:p.Tyr106Ter
  • NP_001341832.1:p.Tyr96Ter
  • NP_001341833.1:p.Tyr71Ter
  • NP_001341834.1:p.Tyr37Ter
  • LRG_130:g.79736T>G
  • NC_000005.9:g.112102953T>G
  • NM_000038.5:c.288T>G
Protein change:
Y106*
Links:
dbSNP: rs376213437
NCBI 1000 Genomes Browser:
rs376213437
Molecular consequence:
  • NM_001354906.2:c.-748T>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000038.6:c.288T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127510.3:c.288T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001127511.3:c.318T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354895.2:c.288T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354896.2:c.288T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354897.2:c.318T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354898.2:c.213T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354899.2:c.288T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354900.2:c.111T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354901.2:c.111T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354902.2:c.318T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354903.2:c.288T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354904.2:c.213T>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001354905.2:c.111T>G - nonsense - [Sequence Ontology: SO:0001587]

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
SCV004044820Myriad Genetics, Inc.
criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))		Pathogenic
(Apr 25, 2023) 		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., SCV004044820.2

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

Description

This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.

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

Last Updated: May 12, 2024