NM_000546.6(TP53):c.1010G>A (p.Arg337His) 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:: RCV003162248.3

Allele description [Variation Report for NM_000546.6(TP53):c.1010G>A (p.Arg337His)]

NM_000546.6(TP53):c.1010G>A (p.Arg337His)

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.1010G>A (p.Arg337His)

HGVS:

NC_000017.11:g.7670699C>T
NG_017013.2:g.21852G>A
NM_000546.6:c.1010G>AMANE SELECT
NM_001126112.3:c.1010G>A
NM_001126113.3:c.*29G>A
NM_001126114.3:c.*117G>A
NM_001126115.2:c.614G>A
NM_001126116.2:c.*117G>A
NM_001126117.2:c.*29G>A
NM_001126118.2:c.893G>A
NM_001276695.3:c.*29G>A
NM_001276696.3:c.*117G>A
NM_001276697.3:c.533G>A
NM_001276698.3:c.*117G>A
NM_001276699.3:c.*29G>A
NM_001276760.3:c.893G>A
NM_001276761.3:c.893G>A
NP_000537.3:p.Arg337His
NP_000537.3:p.Arg337His
NP_001119584.1:p.Arg337His
NP_001119587.1:p.Arg205His
NP_001119590.1:p.Arg298His
NP_001263626.1:p.Arg178His
NP_001263689.1:p.Arg298His
NP_001263690.1:p.Arg298His
LRG_321t1:c.1010G>A
LRG_321:g.21852G>A
LRG_321p1:p.Arg337His
NC_000017.10:g.7574017C>T
NM_000546.4:c.1010G>A
NM_000546.5:c.1010G>A
P04637:p.Arg337His
p.R337H

Protein change:

R178H; ARG337HIS

Links:

UniProtKB: P04637#VAR_035016; OMIM: 191170.0035; dbSNP: rs121912664

NCBI 1000 Genomes Browser:

rs121912664

Molecular consequence:

NM_001126113.3:c.*29G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126114.3:c.*117G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126116.2:c.*117G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001126117.2:c.*29G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276695.3:c.*29G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276696.3:c.*117G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276698.3:c.*117G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_001276699.3:c.*29G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
NM_000546.6:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.533G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]

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
SCV002758162	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

SCV002758162

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, SCV002758162.1

#	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: Nov 3, 2024

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