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:

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

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

TP53:tumor protein p53 [Gene - OMIM - HGNC]
Variant type:
Cytogenetic location:
Genomic location:
Preferred name:
NM_000546.6(TP53):c.214_215delinsTG (p.Pro72Cys)
Other names:
  • 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:
dbSNP: rs730882014
NCBI 1000 Genomes Browser:
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]


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

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)
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)

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
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


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.

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

Last Updated: Nov 27, 2021

Support Center