NM_000546.6(TP53):c.248C>T (p.Ala83Val) AND not provided

Clinical significance:Conflicting interpretations of pathogenicity, Likely benign(2);Uncertain significance(1) (Last evaluated: Jul 26, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, conflicting interpretations

Based on:
3 submissions [Details]
Record status:
current
Accession:
RCV000679367.6

Allele description [Variation Report for NM_000546.6(TP53):c.248C>T (p.Ala83Val)]

NM_000546.6(TP53):c.248C>T (p.Ala83Val)

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.248C>T (p.Ala83Val)
Other names:
p.A83V:GCG>GTG
HGVS:
  • NC_000017.11:g.7676121G>A
  • NG_017013.2:g.16430C>T
  • NM_000546.5:c.248C>T
  • NM_000546.6:c.248C>TMANE SELECT
  • NM_001126112.3:c.248C>T
  • NM_001126113.3:c.248C>T
  • NM_001126114.3:c.248C>T
  • NM_001126116.1:c.-906C>T
  • NM_001126118.2:c.131C>T
  • NM_001276695.3:c.131C>T
  • NM_001276696.3:c.131C>T
  • NM_001276760.3:c.131C>T
  • NM_001276761.3:c.131C>T
  • NP_000537.3:p.Ala83Val
  • NP_000537.3:p.Ala83Val
  • NP_001119584.1:p.Ala83Val
  • NP_001119585.1:p.Ala83Val
  • NP_001119586.1:p.Ala83Val
  • NP_001119590.1:p.Ala44Val
  • NP_001263624.1:p.Ala44Val
  • NP_001263625.1:p.Ala44Val
  • NP_001263689.1:p.Ala44Val
  • NP_001263690.1:p.Ala44Val
  • LRG_321t1:c.248C>T
  • LRG_321t6:c.-906C>T
  • LRG_321:g.16430C>T
  • LRG_321p1:p.Ala83Val
  • NC_000017.10:g.7579439G>A
  • NC_000017.10:g.7579439G>A
  • NM_000546.4:c.248C>T
  • P04637:p.Ala83Val
  • p.A83V
Protein change:
A44V
Links:
UniProtKB: P04637#VAR_044624; dbSNP: rs201717599
NCBI 1000 Genomes Browser:
rs201717599
Molecular consequence:
  • NM_001126116.1:c.-906C>T - genic upstream transcript variant - [Sequence Ontology: SO:0002153]
  • NM_000546.5:c.248C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000546.6:c.248C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.248C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.248C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.248C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.131C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000149625GeneDxcriteria provided, single submitter
Likely benign
(Jul 26, 2020)
germlineclinical testing

Citation Link,

SCV000806236PreventionGenetics,PreventionGeneticscriteria provided, single submitter
Uncertain significance
(Dec 30, 2016)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001134864Quest Diagnostics Nichols Institute San Juan Capistranocriteria provided, single submitter
Likely benign
(May 9, 2019)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

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

Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.

de Andrade KC, Frone MN, Wegman-Ostrosky T, Khincha PP, Kim J, Amadou A, Santiago KM, Fortes FP, Lemonnier N, Mirabello L, Stewart DR, Hainaut P, Kowalski LP, Savage SA, Achatz MI.

Hum Mutat. 2019 Jan;40(1):97-105. doi: 10.1002/humu.23673. Epub 2018 Nov 19.

PubMed [citation]
PMID:
30352134
PMCID:
PMC6296902
See all PubMed Citations (3)

Details of each submission

From GeneDx, SCV000149625.14

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

Description

In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30352134, 10854221, 22923433, 24665023, 24729566, 25986173, 27621404, 27022066, 19509155, 14559903, 24652989)

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

From PreventionGenetics,PreventionGenetics, SCV000806236.1

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

From Quest Diagnostics Nichols Institute San Juan Capistrano, SCV001134864.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

Support Center