NM_000059.4(BRCA2):c.6348del (p.Cys2117fs) 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:: RCV003164641.2

Allele description [Variation Report for NM_000059.4(BRCA2):c.6348del (p.Cys2117fs)]

NM_000059.4(BRCA2):c.6348del (p.Cys2117fs)

Gene:

BRCA2:BRCA2 DNA repair associated [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

13q13.1

Genomic location:

Preferred name:

NM_000059.4(BRCA2):c.6348del (p.Cys2117fs)

HGVS:

NC_000013.11:g.32340703del
NG_012772.3:g.30224del
NM_000059.4:c.6348delMANE SELECT
NP_000050.3:p.Cys2117fs
LRG_293:g.30224del
NC_000013.10:g.32914840del

Protein change:

C2117fs

Molecular consequence:

NM_000059.4:c.6348del - 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
SCV002758336	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

SCV002758336

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, SCV002758336.1

#	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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