NM_000038.6(APC):c.7105_7120delinsT (p.Pro2369_Ser2374delinsCys) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 23, 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:: RCV002367382.2

Allele description [Variation Report for NM_000038.6(APC):c.7105_7120delinsT (p.Pro2369_Ser2374delinsCys)]

NM_000038.6(APC):c.7105_7120delinsT (p.Pro2369_Ser2374delinsCys)

Gene:

APC:APC regulator of WNT signaling pathway [Gene - OMIM - HGNC]

Variant type:

Indel

Cytogenetic location:

5q22.2

Genomic location:

Preferred name:

NM_000038.6(APC):c.7105_7120delinsT (p.Pro2369_Ser2374delinsCys)

HGVS:

NC_000005.10:g.112842699_112842714delinsT
NG_008481.4:g.155179_155194delinsT
NM_000038.6:c.7105_7120delinsTMANE SELECT
NM_001127510.3:c.7105_7120delinsT
NM_001127511.3:c.7051_7066delinsT
NM_001354895.2:c.7105_7120delinsT
NM_001354896.2:c.7159_7174delinsT
NM_001354897.2:c.7135_7150delinsT
NM_001354898.2:c.7030_7045delinsT
NM_001354899.2:c.7021_7036delinsT
NM_001354900.2:c.6982_6997delinsT
NM_001354901.2:c.6928_6943delinsT
NM_001354902.2:c.6832_6847delinsT
NM_001354903.2:c.6802_6817delinsT
NM_001354904.2:c.6727_6742delinsT
NM_001354905.2:c.6625_6640delinsT
NM_001354906.2:c.6256_6271delinsT
NM_001407446.1:c.7189_7204del16insT
NM_001407447.1:c.7159_7174del16insT
NM_001407448.1:c.7159_7174del16insT
NM_001407449.1:c.7159_7174del16insT
NM_001407450.1:c.7105_7120del16insT
NM_001407451.1:c.7084_7099del16insT
NM_001407452.1:c.7075_7090del16insT
NM_001407453.1:c.6928_6943del16insT
NM_001407454.1:c.6856_6871del16insT
NM_001407455.1:c.6856_6871del16insT
NM_001407456.1:c.6856_6871del16insT
NM_001407457.1:c.6856_6871del16insT
NM_001407458.1:c.6802_6817del16insT
NM_001407459.1:c.6802_6817del16insT
NM_001407460.1:c.6802_6817del16insT
NM_001407467.1:c.6718_6733del16insT
NM_001407469.1:c.6718_6733del16insT
NM_001407470.1:c.6256_6271del16insT
NM_001407471.1:c.5953_5968del16insT
NM_001407472.1:c.5953_5968del16insT
NP_000029.2:p.Pro2369_Ser2374delinsCys
NP_000029.2:p.Pro2369_Ser2374delinsCys
NP_001120982.1:p.Pro2369_Ser2374delinsCys
NP_001120982.1:p.Pro2369_Ser2374delinsCys
NP_001120983.1:p.Pro2369_Ser2374delinsCys
NP_001120983.2:p.Pro2351_Ser2356delinsCys
NP_001341824.1:p.Pro2369_Ser2374delinsCys
NP_001341825.1:p.Pro2387_Ser2392delinsCys
NP_001341826.1:p.Pro2379_Ser2384delinsCys
NP_001341827.1:p.Pro2344_Ser2349delinsCys
NP_001341828.1:p.Pro2341_Ser2346delinsCys
NP_001341829.1:p.Pro2328_Ser2333delinsCys
NP_001341830.1:p.Pro2310_Ser2315delinsCys
NP_001341831.1:p.Pro2278_Ser2283delinsCys
NP_001341832.1:p.Pro2268_Ser2273delinsCys
NP_001341833.1:p.Pro2243_Ser2248delinsCys
NP_001341834.1:p.Pro2209_Ser2214delinsCys
NP_001341835.1:p.Pro2086_Ser2091delinsCys
NP_001394375.1:p.Pro2397_Ser2402delinsCys
NP_001394376.1:p.Pro2387_Ser2392delinsCys
NP_001394377.1:p.Pro2387_Ser2392delinsCys
NP_001394378.1:p.Pro2387_Ser2392delinsCys
NP_001394379.1:p.Pro2369_Ser2374delinsCys
NP_001394380.1:p.Pro2362_Ser2367delinsCys
NP_001394381.1:p.Pro2359_Ser2364delinsCys
NP_001394382.1:p.Pro2310_Ser2315delinsCys
NP_001394383.1:p.Pro2286_Ser2291delinsCys
NP_001394384.1:p.Pro2286_Ser2291delinsCys
NP_001394385.1:p.Pro2286_Ser2291delinsCys
NP_001394386.1:p.Pro2286_Ser2291delinsCys
NP_001394387.1:p.Pro2268_Ser2273delinsCys
NP_001394388.1:p.Pro2268_Ser2273delinsCys
NP_001394389.1:p.Pro2268_Ser2273delinsCys
NP_001394396.1:p.Pro2240_Ser2245delinsCys
NP_001394398.1:p.Pro2240_Ser2245delinsCys
NP_001394399.1:p.Pro2086_Ser2091delinsCys
NP_001394400.1:p.Pro1985_Ser1990delinsCys
NP_001394401.1:p.Pro1985_Ser1990delinsCys
LRG_130t1:c.7105_7120del16insT
LRG_130t2:c.7105_7120del16insT
LRG_130t3:c.7105_7120del16insT
LRG_130:g.155179_155194delinsT
LRG_130p1:p.Pro2369_Ser2374delinsCys
LRG_130p2:p.Pro2369_Ser2374delinsCys
LRG_130p3:p.Pro2369_Ser2374delinsCys
NC_000005.9:g.112178396_112178411delinsT
NM_000038.4:c.7105_7120del16insT
NM_000038.5:c.7105_7120delCCAGGTAGACAGATGAinsT
NM_001127510.1:c.7105_7120del16insT
NM_001127511.1:c.7105_7120del16insT
NR_176365.1:n.6940_6955del16insT
NR_176366.1:n.7359_7374del16insT

Molecular consequence:

NM_000038.6:c.7105_7120delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001127510.3:c.7105_7120delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001127511.3:c.7051_7066delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354895.2:c.7105_7120delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354896.2:c.7159_7174delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354897.2:c.7135_7150delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354898.2:c.7030_7045delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354899.2:c.7021_7036delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354900.2:c.6982_6997delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354901.2:c.6928_6943delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354902.2:c.6832_6847delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354903.2:c.6802_6817delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354904.2:c.6727_6742delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354905.2:c.6625_6640delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001354906.2:c.6256_6271delinsT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407446.1:c.7189_7204del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407447.1:c.7159_7174del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407448.1:c.7159_7174del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407449.1:c.7159_7174del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407450.1:c.7105_7120del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407451.1:c.7084_7099del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407452.1:c.7075_7090del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407453.1:c.6928_6943del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407454.1:c.6856_6871del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407455.1:c.6856_6871del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407456.1:c.6856_6871del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407457.1:c.6856_6871del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407458.1:c.6802_6817del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407459.1:c.6802_6817del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407460.1:c.6802_6817del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407467.1:c.6718_6733del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407469.1:c.6718_6733del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407470.1:c.6256_6271del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407471.1:c.5953_5968del16insT - inframe_indel - [Sequence Ontology: SO:0001820]
NM_001407472.1:c.5953_5968del16insT - inframe_indel - [Sequence Ontology: SO:0001820]

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002666871	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Jun 23, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002666871

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Jun 23, 2021)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV002666871.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The c.7105_7120del16insT variant (also known as p.P2369_S2374delinsC), located in coding exon 15 of the APC gene, results from an in-frame deletion of CCAGGTAGACAGATGA and insertion of T at nucleotide positions 7105 to 7120. This results in the substitution of the residue for a cysteine residue at codon 2369, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis (Choi Y et al. PLoS ONE. 2012; 7(10):e46688). Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: May 1, 2024

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