NM_000546.6(TP53):c.375_375+1dup AND Li-Fraumeni syndrome 1

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Feb 13, 2024
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV004440370.1

Allele description [Variation Report for NM_000546.6(TP53):c.375_375+1dup]

NM_000546.6(TP53):c.375_375+1dup

Gene:

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

Variant type:

Duplication

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.375_375+1dup

HGVS:

NC_000017.11:g.7675993_7675994dup
NG_017013.2:g.16557_16558dup
NM_000546.6:c.375_375+1dupMANE SELECT
NM_001126112.3:c.375_375+1dup
NM_001126113.3:c.375_375+1dup
NM_001126114.3:c.375_375+1dup
NM_001126118.2:c.258_258+1dup
NM_001276695.3:c.258_258+1dup
NM_001276696.3:c.258_258+1dup
NM_001276760.3:c.258_258+1dup
NM_001276761.3:c.258_258+1dup
NM_001407262.1:c.375_375+1dup
NM_001407263.1:c.258_258+1dup
NM_001407264.1:c.375_375+1dup
NM_001407265.1:c.258_258+1dup
NM_001407266.1:c.375_375+1dup
NM_001407267.1:c.258_258+1dup
NM_001407268.1:c.375_375+1dup
NM_001407269.1:c.258_258+1dup
NM_001407270.1:c.375_375+1dup
NM_001407271.1:c.258_258+1dup
LRG_321:g.16557_16558dup
NC_000017.10:g.7579311_7579312dup

Molecular consequence:

NM_000546.6:c.375_375+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001126112.3:c.375_375+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001126113.3:c.375_375+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001126114.3:c.375_375+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001126118.2:c.258_258+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001276695.3:c.258_258+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001276696.3:c.258_258+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001276760.3:c.258_258+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001276761.3:c.258_258+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407262.1:c.375_375+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407263.1:c.258_258+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407264.1:c.375_375+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407265.1:c.258_258+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407266.1:c.375_375+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407267.1:c.258_258+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407268.1:c.375_375+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407269.1:c.258_258+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407270.1:c.375_375+1dup - splice donor variant - [Sequence Ontology: SO:0001575]
NM_001407271.1:c.258_258+1dup - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV004932810	Myriad Genetics, Inc.	criteria provided, single submitter (Myriad Autosomal Dominant, Autosomal Recessive and X-Linked Classification Criteria (2023))	Likely pathogenic (Feb 13, 2024)	unknown	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV004932810

Myriad Genetics, Inc.

criteria provided, single submitter

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

Likely pathogenic
(Feb 13, 2024)

unknown

clinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From Myriad Genetics, Inc., SCV004932810.1

#	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 considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

#	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: May 7, 2024

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