NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys) AND Li-Fraumeni syndrome 1

Clinical significance:Uncertain significance (Last evaluated: Apr 12, 2021)

Review status:3 stars out of maximum of 4 stars

reviewed by expert panel

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000410841.2

Allele description [Variation Report for NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)]

NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)

Gene:
TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17p13.1
Genomic location:
Preferred name:
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)
Other names:
p.P72C:CCC>TGC
HGVS:
  • NC_000017.11:g.7676154_7676155delinsCA
  • NG_017013.2:g.16396_16397delinsTG
  • NM_000546.5:c.214_215delinsTG
  • NM_000546.6:c.214_215delinsTGMANE SELECT
  • NM_001126112.3:c.214_215delinsTG
  • NM_001126113.3:c.214_215delinsTG
  • NM_001126114.3:c.214_215delinsTG
  • NM_001126118.2:c.97_98delinsTG
  • NM_001276695.3:c.97_98delinsTG
  • NM_001276696.3:c.97_98delinsTG
  • NM_001276760.3:c.97_98delinsTG
  • NM_001276761.3:c.97_98delinsTG
  • NP_000537.3:p.Pro72Cys
  • NP_000537.3:p.Pro72Cys
  • NP_001119584.1:p.Pro72Cys
  • NP_001119585.1:p.Pro72Cys
  • NP_001119586.1:p.Pro72Cys
  • NP_001119590.1:p.Pro33Cys
  • NP_001263624.1:p.Pro33Cys
  • NP_001263625.1:p.Pro33Cys
  • NP_001263689.1:p.Pro33Cys
  • NP_001263690.1:p.Pro33Cys
  • LRG_321t1:c.214_215delinsTG
  • LRG_321t2:c.214_215delinsTG
  • LRG_321:g.16396_16397delinsTG
  • LRG_321p1:p.Pro72Cys
  • NC_000017.10:g.7579472_7579473delinsCA
  • NM_000546.4:c.214_215delCCinsTG
  • NM_000546.5:c.214_215delCCinsTG
  • NM_001126112.2(TP53):c.214_215delinsTG
  • p.P72C
  • p.Pro72Cys
Protein change:
P33C
Links:
dbSNP: rs730882014
NCBI 1000 Genomes Browser:
rs730882014
Molecular consequence:
  • NM_000546.5:c.214_215delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_000546.6:c.214_215delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.214_215delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.214_215delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.214_215delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.97_98delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.97_98delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.97_98delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.97_98delinsTG - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.97_98delinsTG - 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
SCV000488534Counsylcriteria provided, single submitter
Uncertain significance
(Apr 20, 2016)
unknownclinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001737948ClinGen TP53 Variant Curation Expert Panel,ClinGenreviewed by expert panel
Uncertain significance
(Apr 12, 2021)
germlinecuration

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000488534.1

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

From ClinGen TP53 Variant Curation Expert Panel,ClinGen, SCV001737948.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

his variant is absent in the gnomAD cohort (PM2_Supporting; http://gnomad.broadinstitute.org). This variant has been observed in 4 60+ year old females without a cancer diagnosis (BS2_Supporting; internal laboratory contributors). In summary, the clinical significance of TP53 c.214_215delinsTG (p.Pro72Cys) is uncertain for Li-Fraumeni syndrome. ACMG/AMP criteria applied, as specified by the TP53 Variant Curation Expert Panel: BS2_Supporting, PM2_Supporting.

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

Last Updated: Nov 27, 2021

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