NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Mar 29, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000237032.3

Allele description [Variation Report for NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)]

NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)

Gene:
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup)
HGVS:
  • NC_000005.10:g.112841948TGC[5]
  • NG_008481.4:g.154428TGC[5]
  • NM_000038.6:c.6354TGC[5]MANE SELECT
  • NM_001127510.3:c.6354TGC[5]
  • NM_001127511.3:c.6300TGC[5]
  • NM_001354895.2:c.6354TGC[5]
  • NM_001354896.2:c.6408TGC[5]
  • NM_001354897.2:c.6384TGC[5]
  • NM_001354898.2:c.6279TGC[5]
  • NM_001354899.2:c.6270TGC[5]
  • NM_001354900.2:c.6231TGC[5]
  • NM_001354901.2:c.6177TGC[5]
  • NM_001354902.2:c.6081TGC[5]
  • NM_001354903.2:c.6051TGC[5]
  • NM_001354904.2:c.5976TGC[5]
  • NM_001354905.2:c.5874TGC[5]
  • NM_001354906.2:c.5505TGC[5]
  • NP_000029.2:p.Ala2122dup
  • NP_001120982.1:p.Ala2122dup
  • NP_001120983.2:p.Ala2104dup
  • NP_001341824.1:p.Ala2122dup
  • NP_001341825.1:p.Ala2140dup
  • NP_001341826.1:p.Ala2132dup
  • NP_001341827.1:p.Ala2097dup
  • NP_001341828.1:p.Ala2094dup
  • NP_001341829.1:p.Ala2081dup
  • NP_001341830.1:p.Ala2063dup
  • NP_001341831.1:p.Ala2031dup
  • NP_001341832.1:p.Ala2021dup
  • NP_001341833.1:p.Ala1996dup
  • NP_001341834.1:p.Ala1962dup
  • NP_001341835.1:p.Ala1839dup
  • LRG_130:g.154428TGC[5]
  • NC_000005.9:g.112177642_112177643insGCT
  • NC_000005.9:g.112177645TGC[5]
  • NM_000038.5:c.6363_6365dup
  • NM_000038.5:c.6363_6365dupTGC
  • p.Q2117_A2118INSC
Links:
dbSNP: rs587780602
NCBI 1000 Genomes Browser:
rs587780602
Molecular consequence:
  • NM_000038.6:c.6354TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001127510.3:c.6354TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001127511.3:c.6300TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354895.2:c.6354TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354896.2:c.6408TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354897.2:c.6384TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354898.2:c.6279TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354899.2:c.6270TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354900.2:c.6231TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354901.2:c.6177TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354902.2:c.6081TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354903.2:c.6051TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354904.2:c.5976TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354905.2:c.5874TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]
  • NM_001354906.2:c.5505TGC[5] - inframe_insertion - [Sequence Ontology: SO:0001821]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000292463GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 29, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod

Details of each submission

From GeneDx, SCV000292463.3

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

Description

This duplication of three nucleotides in APC is denoted c.6363_6365dupTGC at the cDNA level and p.Ala2122dup at the protein level. The normal sequence, with the bases that are duplicated in brackets, is CTGC[dupTGC]ATGT. This in-frame duplication of a single Alanine residue is not located in a known functional domain (Azzopardi 2008, UniProt). This variant was reported in an individual undergoing multigene cancer panel testing due to a history of a Lynch syndrome-related cancer and/or polyps (Yurgelun 2015). APC Ala2122dup was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, suggesting it is not a common benign variant in these populations. Since in-frame duplications may or may not inhibit proper protein functioning, the clinical significance of this finding remains unclear at this time and we consider APC Ala2122dup to be a variant of uncertain significance.

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

Last Updated: Jun 23, 2021

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