NM_000038.6(APC):c.1809dup (p.Ala604fs) AND Gastric cancer

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 1, 2021
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV003164596.2

Allele description [Variation Report for NM_000038.6(APC):c.1809dup (p.Ala604fs)]

NM_000038.6(APC):c.1809dup (p.Ala604fs)

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.1809dup (p.Ala604fs)

HGVS:

NC_000005.10:g.112835016dup
NG_008481.4:g.147496dup
NM_000038.6:c.1809dupMANE SELECT
NM_001127510.3:c.1809dup
NM_001127511.3:c.1755dup
NM_001354895.2:c.1809dup
NM_001354896.2:c.1863dup
NM_001354897.2:c.1839dup
NM_001354898.2:c.1734dup
NM_001354899.2:c.1725dup
NM_001354900.2:c.1686dup
NM_001354901.2:c.1632dup
NM_001354902.2:c.1536dup
NM_001354903.2:c.1506dup
NM_001354904.2:c.1431dup
NM_001354905.2:c.1329dup
NM_001354906.2:c.960dup
NM_001407446.1:c.1893dup
NM_001407447.1:c.1863dup
NM_001407448.1:c.1863dup
NM_001407449.1:c.1863dup
NM_001407450.1:c.1809dup
NM_001407451.1:c.1788dup
NM_001407452.1:c.1779dup
NM_001407453.1:c.1632dup
NM_001407454.1:c.1560dup
NM_001407455.1:c.1560dup
NM_001407456.1:c.1560dup
NM_001407457.1:c.1560dup
NM_001407458.1:c.1506dup
NM_001407459.1:c.1506dup
NM_001407460.1:c.1506dup
NM_001407467.1:c.1422dup
NM_001407469.1:c.1422dup
NM_001407470.1:c.960dup
NM_001407471.1:c.657dup
NM_001407472.1:c.657dup
NP_000029.2:p.Ala604Serfs
NP_000029.2:p.Ala604fs
NP_001120982.1:p.Ala604Serfs
NP_001120982.1:p.Ala604fs
NP_001120983.1:p.Ala604Serfs
NP_001120983.2:p.Ala586fs
NP_001341824.1:p.Ala604fs
NP_001341825.1:p.Ala622fs
NP_001341826.1:p.Ala614fs
NP_001341827.1:p.Ala579fs
NP_001341828.1:p.Ala576fs
NP_001341829.1:p.Ala563fs
NP_001341830.1:p.Ala545fs
NP_001341831.1:p.Ala513fs
NP_001341832.1:p.Ala503fs
NP_001341833.1:p.Ala478fs
NP_001341834.1:p.Ala444fs
NP_001341835.1:p.Ala321fs
NP_001394375.1:p.Ala632Serfs
NP_001394376.1:p.Ala622Serfs
NP_001394377.1:p.Ala622Serfs
NP_001394378.1:p.Ala622Serfs
NP_001394379.1:p.Ala604Serfs
NP_001394380.1:p.Ala597Serfs
NP_001394381.1:p.Ala594Serfs
NP_001394382.1:p.Ala545Serfs
NP_001394383.1:p.Ala521Serfs
NP_001394384.1:p.Ala521Serfs
NP_001394385.1:p.Ala521Serfs
NP_001394386.1:p.Ala521Serfs
NP_001394387.1:p.Ala503Serfs
NP_001394388.1:p.Ala503Serfs
NP_001394389.1:p.Ala503Serfs
NP_001394396.1:p.Ala475Serfs
NP_001394398.1:p.Ala475Serfs
NP_001394399.1:p.Ala321Serfs
NP_001394400.1:p.Ala220Serfs
NP_001394401.1:p.Ala220Serfs
LRG_130t1:c.1809dup
LRG_130t2:c.1809dup
LRG_130t3:c.1809dup
LRG_130:g.147496dup
LRG_130p1:p.Ala604Serfs
LRG_130p2:p.Ala604Serfs
LRG_130p3:p.Ala604Serfs
NC_000005.9:g.112170713dup
NM_000038.4:c.1809dup
NM_001127510.1:c.1809dup
NM_001127511.1:c.1809dup
NR_176365.1:n.1644dup
NR_176366.1:n.2063dup

Protein change:

A321fs

Molecular consequence:

NM_000038.6:c.1809dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127510.3:c.1809dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001127511.3:c.1755dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354895.2:c.1809dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354896.2:c.1863dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354897.2:c.1839dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354898.2:c.1734dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354899.2:c.1725dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354900.2:c.1686dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354901.2:c.1632dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354902.2:c.1536dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354903.2:c.1506dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354904.2:c.1431dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354905.2:c.1329dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001354906.2:c.960dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407446.1:c.1893dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407447.1:c.1863dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407448.1:c.1863dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407449.1:c.1863dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407450.1:c.1809dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407451.1:c.1788dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407452.1:c.1779dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407453.1:c.1632dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407454.1:c.1560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407455.1:c.1560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407456.1:c.1560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407457.1:c.1560dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407458.1:c.1506dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407459.1:c.1506dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407460.1:c.1506dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407467.1:c.1422dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407469.1:c.1422dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407470.1:c.960dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407471.1:c.657dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407472.1:c.657dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Gastric cancer
Synonyms:: Stomach cancer; Malignant tumor of stomach
Identifiers:: MONDO: MONDO:0001056; MeSH: D013274; MedGen: C0024623; OMIM: 613659; Human Phenotype Ontology: HP:0012126

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002758252	Laboratory for Genotyping Development, RIKEN	no assertion criteria provided	Pathogenic (Jul 1, 2021)	germline	research	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002758252

Laboratory for Genotyping Development, RIKEN

no assertion criteria provided

Pathogenic
(Jul 1, 2021)

germline

research

PubMed (1)
[See all records that cite this PMID]

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	research

Citations

PubMed

Helicobacter pylori, Homologous-Recombination Genes, and Gastric Cancer.

Usui Y, Taniyama Y, Endo M, Koyanagi YN, Kasugai Y, Oze I, Ito H, Imoto I, Tanaka T, Tajika M, Niwa Y, Iwasaki Y, Aoi T, Hakozaki N, Takata S, Suzuki K, Terao C, Hatakeyama M, Hirata M, Sugano K, Yoshida T, Kamatani Y, et al.

N Engl J Med. 2023 Mar 30;388(13):1181-1190. doi: 10.1056/NEJMoa2211807.

PubMed [citation]

PMID:: 36988593

Details of each submission

From Laboratory for Genotyping Development, RIKEN, SCV002758252.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (1)

#	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: Sep 16, 2024

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