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NM_000546.6(TP53):c.460G>A (p.Gly154Ser) AND TP53-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 16, 2024
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:
RCV003905134.2

Allele description [Variation Report for NM_000546.6(TP53):c.460G>A (p.Gly154Ser)]

NM_000546.6(TP53):c.460G>A (p.Gly154Ser)

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.460G>A (p.Gly154Ser)
HGVS:
  • NC_000017.11:g.7675152C>T
  • NG_017013.2:g.17399G>A
  • NM_000546.6:c.460G>AMANE SELECT
  • NM_001126112.3:c.460G>A
  • NM_001126113.3:c.460G>A
  • NM_001126114.3:c.460G>A
  • NM_001126115.2:c.64G>A
  • NM_001126116.2:c.64G>A
  • NM_001126117.2:c.64G>A
  • NM_001126118.2:c.343G>A
  • NM_001276695.3:c.343G>A
  • NM_001276696.3:c.343G>A
  • NM_001276697.3:c.-18G>A
  • NM_001276698.3:c.-18G>A
  • NM_001276699.3:c.-18G>A
  • NM_001276760.3:c.343G>A
  • NM_001276761.3:c.343G>A
  • NP_000537.3:p.Gly154Ser
  • NP_000537.3:p.Gly154Ser
  • NP_001119584.1:p.Gly154Ser
  • NP_001119585.1:p.Gly154Ser
  • NP_001119586.1:p.Gly154Ser
  • NP_001119587.1:p.Gly22Ser
  • NP_001119588.1:p.Gly22Ser
  • NP_001119589.1:p.Gly22Ser
  • NP_001119590.1:p.Gly115Ser
  • NP_001263624.1:p.Gly115Ser
  • NP_001263625.1:p.Gly115Ser
  • NP_001263689.1:p.Gly115Ser
  • NP_001263690.1:p.Gly115Ser
  • LRG_321t1:c.460G>A
  • LRG_321:g.17399G>A
  • LRG_321p1:p.Gly154Ser
  • NC_000017.10:g.7578470C>T
  • NG_017013.1:g.17394G>A
  • NM_000546.4:c.460G>A
  • NM_000546.5:c.460G>A
  • P04637:p.Gly154Ser
Protein change:
G115S
Links:
UniProtKB: P04637#VAR_044833; dbSNP: rs137852789
NCBI 1000 Genomes Browser:
rs137852789
Molecular consequence:
  • NM_001276697.3:c.-18G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276698.3:c.-18G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001276699.3:c.-18G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000546.6:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.460G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.64G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.64G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.64G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.343G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
TP53-related disorder
Synonyms:
TP53-related condition
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004721537PreventionGenetics, part of Exact Sciences
no assertion criteria provided
Uncertain significance
(Jan 16, 2024) 		germlineclinical testing

Help

Summary from all submissions

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

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004721537.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The TP53 c.460G>A variant is predicted to result in the amino acid substitution p.Gly154Ser. This variant was reported in an individual with breast cancer (Yang et al 2017. PubMed ID: 28664506) or an individual with renal cancer (Bittar CM et al 2019. PubMed ID: 31321604). This variant is reported in 0.0047% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Functional studies have been inconclusive regarding the impact of this missense change on TP53 function (Kato S et al 2003. PubMed ID: 12826609; Jordan JJ et al 2010. PubMed ID: 20407015; Kotler E et al 2018. PubMed ID: 29979965). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Jan 13, 2025