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

Germline classification:: Uncertain significance (3 submissions)
Last evaluated:: Apr 12, 2021
Review status:: 3 stars out of maximum of 4 stars
reviewed by expert panel

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:: RCV000410841.6

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_000546.6: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_000546.5:c.214_215delinsTG
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_000546.6: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)
Identifiers:: Gene: 553989; MedGen: C1835398; Orphanet: 524; OMIM: 151623

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000488534	Counsyl	criteria provided, single submitter (Counsyl Autosomal Dominant Disease Classification criteria (2015))	Uncertain significance (Apr 20, 2016)	unknown	clinical testing	Counsyl Autosomal Dominant Disease Classification criteria (2015), Citation Link,
SCV001737948	ClinGen TP53 Variant Curation Expert Panel, ClinGen	reviewed by expert panel (ClinGen TP53 ACMG Specifications v1)	Uncertain significance (Apr 12, 2021)	germline	curation	Citation Link,
SCV004017852	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Uncertain significance (Apr 11, 2023)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000488534

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Dominant Disease Classification criteria (2015))

Uncertain significance
(Apr 20, 2016)

unknown

clinical testing

Counsyl Autosomal Dominant Disease Classification criteria (2015),

Citation Link,

SCV001737948

ClinGen TP53 Variant Curation Expert Panel, ClinGen

reviewed by expert panel

(ClinGen TP53 ACMG Specifications v1)

Uncertain significance
(Apr 12, 2021)

germline

curation

Citation Link,

SCV004017852

Myriad Genetics, Inc.

criteria provided, single submitter

(Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))

Uncertain significance
(Apr 11, 2023)

unknown

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	curation
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Counsyl, SCV000488534.2

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

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	curation	not 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.

#	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

From Myriad Genetics, Inc., SCV004017852.1

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

Description

This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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