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NM_000546.6(TP53):c.1030C>G (p.Leu344Val) AND Hereditary cancer-predisposing syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 25, 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:
RCV002379878.2

Allele description [Variation Report for NM_000546.6(TP53):c.1030C>G (p.Leu344Val)]

NM_000546.6(TP53):c.1030C>G (p.Leu344Val)

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.1030C>G (p.Leu344Val)
HGVS:
  • NC_000017.11:g.7670679G>C
  • NG_017013.2:g.21872C>G
  • NM_000546.6:c.1030C>GMANE SELECT
  • NM_001126112.3:c.1030C>G
  • NM_001126113.3:c.*49C>G
  • NM_001126114.3:c.*137C>G
  • NM_001126115.2:c.634C>G
  • NM_001126116.2:c.*137C>G
  • NM_001126117.2:c.*49C>G
  • NM_001126118.2:c.913C>G
  • NM_001276695.3:c.*49C>G
  • NM_001276696.3:c.*137C>G
  • NM_001276697.3:c.553C>G
  • NM_001276698.3:c.*137C>G
  • NM_001276699.3:c.*49C>G
  • NM_001276760.3:c.913C>G
  • NM_001276761.3:c.913C>G
  • NP_000537.3:p.Leu344Val
  • NP_001119584.1:p.Leu344Val
  • NP_001119587.1:p.Leu212Val
  • NP_001119590.1:p.Leu305Val
  • NP_001263626.1:p.Leu185Val
  • NP_001263689.1:p.Leu305Val
  • NP_001263690.1:p.Leu305Val
  • LRG_321t1:c.1030C>G
  • LRG_321:g.21872C>G
  • NC_000017.10:g.7573997G>C
  • NM_000546.4:c.1030C>G
  • NM_000546.5:c.1030C>G
Protein change:
L185V
Links:
dbSNP: rs1597349242
NCBI 1000 Genomes Browser:
rs1597349242
Molecular consequence:
  • NM_001126113.3:c.*49C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126114.3:c.*137C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126116.2:c.*137C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126117.2:c.*49C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276695.3:c.*49C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276696.3:c.*137C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276698.3:c.*137C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276699.3:c.*49C>G - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000546.6:c.1030C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.1030C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.634C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.913C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.553C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.913C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.913C>G - 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
SCV002702244Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(Jun 25, 2021) 		germlineclinical testing

PubMed (2)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

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

Mutational processes shape the landscape of TP53 mutations in human cancer.

Giacomelli AO, Yang X, Lintner RE, McFarland JM, Duby M, Kim J, Howard TP, Takeda DY, Ly SH, Kim E, Gannon HS, Hurhula B, Sharpe T, Goodale A, Fritchman B, Steelman S, Vazquez F, Tsherniak A, Aguirre AJ, Doench JG, Piccioni F, Roberts CWM, et al.

Nat Genet. 2018 Oct;50(10):1381-1387. doi: 10.1038/s41588-018-0204-y. Epub 2018 Sep 17.

PubMed [citation]
PMID:
30224644
PMCID:
PMC6168352

Details of each submission

From Ambry Genetics, SCV002702244.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

The p.L344V variant (also known as c.1030C>G), located in coding exon 9 of the TP53 gene, results from a C to G substitution at nucleotide position 1030. The leucine at codon 344 is replaced by valine, an amino acid with highly similar properties. This variant is reported to have partial loss of transactivation in yeast based assays (IARC TP53 database: Kato S et al. Proc. Natl. Acad. Sci. U.S.A., 2003 Jul;100:8424-9). Studies conducted in human cell lines indicate this alteration remains proficient at growth suppression (Giacomelli AO et al. Nat. Genet., 2018 10;50:1381-1387). Based on internal structural analysis, this variant is anticipated to result in a significant decrease in structural stability (Ambry internal data). This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 1, 2024