NM_000546.6(TP53):c.365T>C (p.Val122Ala) AND Hereditary cancer-predisposing syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 17, 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:: RCV002458898.2

Allele description [Variation Report for NM_000546.6(TP53):c.365T>C (p.Val122Ala)]

NM_000546.6(TP53):c.365T>C (p.Val122Ala)

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.365T>C (p.Val122Ala)

HGVS:

NC_000017.11:g.7676004A>G
NG_017013.2:g.16547T>C
NM_000546.6:c.365T>CMANE SELECT
NM_001126112.3:c.365T>C
NM_001126113.3:c.365T>C
NM_001126114.3:c.365T>C
NM_001126118.2:c.248T>C
NM_001276695.3:c.248T>C
NM_001276696.3:c.248T>C
NM_001276760.3:c.248T>C
NM_001276761.3:c.248T>C
NP_000537.3:p.Val122Ala
NP_001119584.1:p.Val122Ala
NP_001119585.1:p.Val122Ala
NP_001119586.1:p.Val122Ala
NP_001119590.1:p.Val83Ala
NP_001263624.1:p.Val83Ala
NP_001263625.1:p.Val83Ala
NP_001263689.1:p.Val83Ala
NP_001263690.1:p.Val83Ala
LRG_321:g.16547T>C
NC_000017.10:g.7579322A>G
NM_000546.4:c.365T>C

Protein change:

V122A

Links:

dbSNP: rs2151038394

NCBI 1000 Genomes Browser:

rs2151038394

Molecular consequence:

NM_000546.6:c.365T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.365T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.365T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.365T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.248T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.248T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.248T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.248T>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.248T>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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filament-like plant protein 4 isoform X2 [Benincasa hispida]
gi|1955879046|ref|XP_038897512.1|

Protein
esv3560159 (1)
dbVar

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002613483	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Uncertain significance (Sep 17, 2021)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002613483

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Uncertain significance
(Sep 17, 2021)

germline

clinical testing

Citation Link

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	clinical testing

Details of each submission

From Ambry Genetics, SCV002613483.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

The p.V122A variant (also known as c.365T>C), located in coding exon 3 of the TP53 gene, results from a T to C substitution at nucleotide position 365. The valine at codon 122 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

#	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 10, 2024

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