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NM_000546.6(TP53):c.129G>C (p.Leu43Phe) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 7, 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:
RCV002257219.2

Allele description [Variation Report for NM_000546.6(TP53):c.129G>C (p.Leu43Phe)]

NM_000546.6(TP53):c.129G>C (p.Leu43Phe)

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.129G>C (p.Leu43Phe)
HGVS:
  • NC_000017.11:g.7676240C>G
  • NG_017013.2:g.16311G>C
  • NM_000546.6:c.129G>CMANE SELECT
  • NM_001126112.3:c.129G>C
  • NM_001126113.3:c.129G>C
  • NM_001126114.3:c.129G>C
  • NM_001126118.2:c.12G>C
  • NM_001276695.3:c.12G>C
  • NM_001276696.3:c.12G>C
  • NM_001276760.3:c.12G>C
  • NM_001276761.3:c.12G>C
  • NP_000537.3:p.Leu43Phe
  • NP_001119584.1:p.Leu43Phe
  • NP_001119585.1:p.Leu43Phe
  • NP_001119586.1:p.Leu43Phe
  • NP_001119590.1:p.Leu4Phe
  • NP_001263624.1:p.Leu4Phe
  • NP_001263625.1:p.Leu4Phe
  • NP_001263689.1:p.Leu4Phe
  • NP_001263690.1:p.Leu4Phe
  • LRG_321t1:c.129G>C
  • LRG_321:g.16311G>C
  • NC_000017.10:g.7579558C>G
  • NM_000546.5:c.129G>C
Protein change:
L43F
Links:
dbSNP: rs754332870
NCBI 1000 Genomes Browser:
rs754332870
Molecular consequence:
  • NM_000546.6:c.129G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.129G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.129G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.129G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.12G>C - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002530426Sema4, Sema4
criteria provided, single submitter

(Sema4 Curation Guidelines)		Uncertain significance
(May 7, 2021) 		germlinecuration

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

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Germline pathogenic variants of 11 breast cancer genes in 7,051 Japanese patients and 11,241 controls.

Momozawa Y, Iwasaki Y, Parsons MT, Kamatani Y, Takahashi A, Tamura C, Katagiri T, Yoshida T, Nakamura S, Sugano K, Miki Y, Hirata M, Matsuda K, Spurdle AB, Kubo M.

Nat Commun. 2018 Oct 4;9(1):4083. doi: 10.1038/s41467-018-06581-8.

PubMed [citation]
PMID:
30287823
PMCID:
PMC6172276

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
See all PubMed Citations (3)

Details of each submission

From Sema4, Sema4, SCV002530426.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2024