NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND Hereditary breast ovarian cancer syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Nov 1, 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:: RCV002307364.4

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:: Hereditary breast ovarian cancer syndrome
Synonyms:: Hereditary breast and ovarian cancer syndrome; Hereditary breast and ovarian cancer; Hereditary breast and ovarian cancer syndrome (HBOC); See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0003582; MeSH: D061325; MedGen: C0677776; Orphanet: 145

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002515183	Genetics Program, Instituto Nacional de Cancer	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Nov 1, 2021)	germline	research	PubMed (3) [See all records that cite these PMIDs] 12826609, 25741868, 36329109

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002515183

Genetics Program, Instituto Nacional de Cancer

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Nov 1, 2021)

germline

research

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Understanding the function-structure and function-mutation relationships of p53 tumor suppressor protein by high-resolution missense mutation analysis.

Kato S, Han SY, Liu W, Otsuka K, Shibata H, Kanamaru R, Ishioka C.

Proc Natl Acad Sci U S A. 2003 Jul 8;100(14):8424-9. Epub 2003 Jun 25.

PubMed [citation]

PMID:: 12826609
PMCID:: PMC166245

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

See all PubMed Citations (3)

Details of each submission

From Genetics Program, Instituto Nacional de Cancer, SCV002515183.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	PubMed (3)

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

Last Updated: May 12, 2024

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