NM_000546.6(TP53):c.248C>T (p.Ala83Val) AND Li-Fraumeni syndrome 1

Clinical significance:Uncertain significance (Last evaluated: Oct 13, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000409540.1

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)

Name:
Li-Fraumeni syndrome 1 (LFS)
Synonyms:
Li-Fraumeni syndrome 3
Identifiers:
Gene: 553989; MONDO: MONDO:0007903; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000489472Counsylcriteria provided, single submitter
Uncertain significance
(Oct 13, 2016)
unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015)

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000489472.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 20, 2021

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