NM_000546.6(TP53):c.270del (p.Trp91fs) AND TP53-related disorder

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 1, 2024
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV004797744.1

Allele description [Variation Report for NM_000546.6(TP53):c.270del (p.Trp91fs)]

NM_000546.6(TP53):c.270del (p.Trp91fs)

Gene:

TP53:tumor protein p53 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.270del (p.Trp91fs)

HGVS:

NC_000017.11:g.7676100del
NG_017013.2:g.16452del
NM_000546.6:c.270delMANE SELECT
NM_001126112.3:c.270del
NM_001126113.3:c.270del
NM_001126114.3:c.270del
NM_001126118.2:c.153del
NM_001276695.3:c.153del
NM_001276696.3:c.153del
NM_001276760.3:c.153del
NM_001276761.3:c.153del
NM_001407262.1:c.270del
NM_001407263.1:c.153del
NM_001407264.1:c.270del
NM_001407265.1:c.153del
NM_001407266.1:c.270del
NM_001407267.1:c.153del
NM_001407268.1:c.270del
NM_001407269.1:c.153del
NM_001407270.1:c.270del
NM_001407271.1:c.153del
NP_000537.3:p.Trp91Glyfs
NP_000537.3:p.Trp91fs
NP_001119584.1:p.Trp91Glyfs
NP_001119584.1:p.Trp91fs
NP_001119585.1:p.Trp91Glyfs
NP_001119585.1:p.Trp91fs
NP_001119586.1:p.Trp91Glyfs
NP_001119586.1:p.Trp91fs
NP_001119590.1:p.Trp52Glyfs
NP_001119590.1:p.Trp52fs
NP_001263624.1:p.Trp52fs
NP_001263625.1:p.Trp52fs
NP_001263689.1:p.Trp52fs
NP_001263690.1:p.Trp52fs
NP_001394191.1:p.Trp91fs
NP_001394192.1:p.Trp52fs
NP_001394193.1:p.Trp91fs
NP_001394194.1:p.Trp52fs
NP_001394195.1:p.Trp91fs
NP_001394196.1:p.Trp52fs
NP_001394197.1:p.Trp91fs
NP_001394198.1:p.Trp52fs
NP_001394199.1:p.Trp91fs
NP_001394200.1:p.Trp52fs
LRG_321t1:c.269del
LRG_321t2:c.269del
LRG_321t3:c.269del
LRG_321t4:c.269del
LRG_321t8:c.152del
LRG_321:g.16452del
LRG_321:p.Trp91Glyfs
LRG_321p1:p.Trp91Glyfs
LRG_321p3:p.Trp91Glyfs
LRG_321p4:p.Trp91Glyfs
LRG_321p8:p.Trp52Glyfs
NC_000017.10:g.7579418del
NM_000546.5:c.269delC
NM_001126112.2:c.269delC
NM_001126113.2:c.269delC
NM_001126114.2:c.269delC
NM_001126118.1:c.152delC
NR_176326.1:n.412del

Protein change:

W52fs

Molecular consequence:

NM_000546.6:c.270del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126112.3:c.270del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126113.3:c.270del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126114.3:c.270del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001126118.2:c.153del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276695.3:c.153del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276696.3:c.153del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276760.3:c.153del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001276761.3:c.153del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407262.1:c.270del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407263.1:c.153del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407264.1:c.270del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407265.1:c.153del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407266.1:c.270del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407267.1:c.153del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407268.1:c.270del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407269.1:c.153del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407270.1:c.270del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001407271.1:c.153del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_176326.1:n.412del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: TP53-related disorder
Synonyms:: TP53-related condition
Identifiers:

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005419161	Clinical Genetics and Genomics, Karolinska University Hospital	no assertion criteria provided	Likely pathogenic (Oct 1, 2024)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005419161

Clinical Genetics and Genomics, Karolinska University Hospital

no assertion criteria provided

Likely pathogenic
(Oct 1, 2024)

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.

Fortuno C, Lee K, Olivier M, Pesaran T, Mai PL, de Andrade KC, Attardi LD, Crowley S, Evans DG, Feng BJ, Foreman AKM, Frone MN, Huether R, James PA, McGoldrick K, Mester J, Seifert BA, Slavin TP, Witkowski L, Zhang L, Plon SE, Spurdle AB, et al.

Hum Mutat. 2021 Mar;42(3):223-236. doi: 10.1002/humu.24152. Epub 2020 Dec 25.

PubMed [citation]

PMID:: 33300245
PMCID:: PMC8374922

Details of each submission

From Clinical Genetics and Genomics, Karolinska University Hospital, SCV005419161.1

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

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

Last Updated: Dec 7, 2024

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