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NM_000038.6(APC):c.295_296insTTCC (p.Arg99fs) AND Hereditary cancer-predisposing syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 29, 2021
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:
RCV002441866.1

Allele description [Variation Report for NM_000038.6(APC):c.295_296insTTCC (p.Arg99fs)]

NM_000038.6(APC):c.295_296insTTCC (p.Arg99fs)

Gene:
APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]
Variant type:
Insertion
Cytogenetic location:
5q22.2
Genomic location:
Preferred name:
NM_000038.6(APC):c.295_296insTTCC (p.Arg99fs)
HGVS:
  • NC_000005.10:g.112767263_112767264insTTCC
  • NG_008481.4:g.79743_79744insTTCC
  • NM_000038.6:c.295_296insTTCCMANE SELECT
  • NM_001127510.3:c.295_296insTTCC
  • NM_001127511.3:c.325_326insTTCC
  • NM_001354895.2:c.295_296insTTCC
  • NM_001354896.2:c.295_296insTTCC
  • NM_001354897.2:c.325_326insTTCC
  • NM_001354898.2:c.220_221insTTCC
  • NM_001354899.2:c.295_296insTTCC
  • NM_001354900.2:c.118_119insTTCC
  • NM_001354901.2:c.118_119insTTCC
  • NM_001354902.2:c.325_326insTTCC
  • NM_001354903.2:c.295_296insTTCC
  • NM_001354904.2:c.220_221insTTCC
  • NM_001354905.2:c.118_119insTTCC
  • NM_001354906.2:c.-741_-740insTTCC
  • NM_001407446.1:c.325_326insTTCC
  • NM_001407447.1:c.295_296insTTCC
  • NM_001407448.1:c.295_296insTTCC
  • NM_001407449.1:c.295_296insTTCC
  • NM_001407450.1:c.295_296insTTCC
  • NM_001407451.1:c.220_221insTTCC
  • NM_001407452.1:c.295_296insTTCC
  • NM_001407453.1:c.118_119insTTCC
  • NM_001407454.1:c.295_296insTTCC
  • NM_001407455.1:c.295_296insTTCC
  • NM_001407456.1:c.295_296insTTCC
  • NM_001407457.1:c.295_296insTTCC
  • NM_001407458.1:c.295_296insTTCC
  • NM_001407459.1:c.295_296insTTCC
  • NM_001407460.1:c.295_296insTTCC
  • NM_001407467.1:c.295_296insTTCC
  • NM_001407469.1:c.295_296insTTCC
  • NM_001407470.1:c.-741_-740insTTCC
  • NM_001407471.1:c.-741_-740insTTCC
  • NM_001407472.1:c.-741_-740insTTCC
  • NP_000029.2:p.Arg99Leufs
  • NP_000029.2:p.Arg99fs
  • NP_001120982.1:p.Arg99Leufs
  • NP_001120982.1:p.Arg99fs
  • NP_001120983.1:p.Arg99Leufs
  • NP_001120983.2:p.Arg109fs
  • NP_001341824.1:p.Arg99fs
  • NP_001341825.1:p.Arg99fs
  • NP_001341826.1:p.Arg109fs
  • NP_001341827.1:p.Arg74fs
  • NP_001341828.1:p.Arg99fs
  • NP_001341829.1:p.Arg40fs
  • NP_001341830.1:p.Arg40fs
  • NP_001341831.1:p.Arg109fs
  • NP_001341832.1:p.Arg99fs
  • NP_001341833.1:p.Arg74fs
  • NP_001341834.1:p.Arg40fs
  • NP_001394375.1:p.Arg109Leufs
  • NP_001394376.1:p.Arg99Leufs
  • NP_001394377.1:p.Arg99Leufs
  • NP_001394378.1:p.Arg99Leufs
  • NP_001394379.1:p.Arg99Leufs
  • NP_001394380.1:p.Arg74Leufs
  • NP_001394381.1:p.Arg99Leufs
  • NP_001394382.1:p.Arg40Leufs
  • NP_001394383.1:p.Arg99Leufs
  • NP_001394384.1:p.Arg99Leufs
  • NP_001394385.1:p.Arg99Leufs
  • NP_001394386.1:p.Arg99Leufs
  • NP_001394387.1:p.Arg99Leufs
  • NP_001394388.1:p.Arg99Leufs
  • NP_001394389.1:p.Arg99Leufs
  • NP_001394396.1:p.Arg99Leufs
  • NP_001394398.1:p.Arg99Leufs
  • LRG_130t1:c.295_296insTTCC
  • LRG_130t2:c.295_296insTTCC
  • LRG_130t3:c.295_296insTTCC
  • LRG_130:g.79743_79744insTTCC
  • LRG_130p1:p.Arg99Leufs
  • LRG_130p2:p.Arg99Leufs
  • LRG_130p3:p.Arg99Leufs
  • NC_000005.9:g.112102960_112102961insTTCC
  • NM_000038.4:c.295_296insTTCC
  • NM_000038.5:c.295_296insTTCC
  • NM_001127510.1:c.295_296insTTCC
  • NM_001127511.1:c.295_296insTTCC
  • NR_176365.1:n.465_466insTTCC
  • NR_176366.1:n.698_699insTTCC
Protein change:
R109fs
Molecular consequence:
  • NM_001354906.2:c.-741_-740insTTCC - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000038.6:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127510.3:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001127511.3:c.325_326insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354895.2:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354896.2:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354897.2:c.325_326insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354898.2:c.220_221insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354899.2:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354900.2:c.118_119insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354901.2:c.118_119insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354902.2:c.325_326insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354903.2:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354904.2:c.220_221insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001354905.2:c.118_119insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407446.1:c.325_326insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407447.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407448.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407449.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407450.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407451.1:c.220_221insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407452.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407453.1:c.118_119insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407454.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407455.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407456.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407457.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407458.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407459.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407460.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407467.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001407469.1:c.295_296insTTCC - frameshift variant - [Sequence Ontology: SO:0001589]
Observations:
1

Condition(s)

Name:
Hereditary cancer-predisposing syndrome
Synonyms:
Neoplastic Syndromes, Hereditary; Tumor predisposition; Cancer predisposition; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0015356; MeSH: D009386; MedGen: C0027672

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002749325Ambry Genetics
criteria provided, single submitter

(Ambry General Variant Classification Scheme_2022)		Pathogenic
(Sep 29, 2021) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV002749325.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

The c.295_296insTTCC pathogenic mutation, located in coding exon 3 of the APC gene, results from an insertion of 4 nucleotides at position 295, causing a translational frameshift with a predicted alternate stop codon (p.R99Lfs*41). This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknown1not providednot provided1not providednot providednot provided

Last Updated: Dec 24, 2023