NM_000546.6(TP53):c.375+6T>C AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 29, 2014
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:: RCV000161023.2

Allele description [Variation Report for NM_000546.6(TP53):c.375+6T>C]

NM_000546.6(TP53):c.375+6T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

17p13.1

Genomic location:

Preferred name:

NM_000546.6(TP53):c.375+6T>C

HGVS:

NC_000017.11:g.7675988A>G
NG_017013.2:g.16563T>C
NM_000546.6:c.375+6T>CMANE SELECT
NM_001126112.3:c.375+6T>C
NM_001126113.3:c.375+6T>C
NM_001126114.3:c.375+6T>C
NM_001126118.2:c.258+6T>C
NM_001276695.3:c.258+6T>C
NM_001276696.3:c.258+6T>C
NM_001276760.3:c.258+6T>C
NM_001276761.3:c.258+6T>C
LRG_321t1:c.375+6T>C
LRG_321:g.16563T>C
NC_000017.10:g.7579306A>G
NM_000546.4:c.375+6T>C
NM_000546.5:c.375+6T>C

Links:

dbSNP: rs730881998

NCBI 1000 Genomes Browser:

rs730881998

Molecular consequence:

NM_000546.6:c.375+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001126112.3:c.375+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001126113.3:c.375+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001126114.3:c.375+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001126118.2:c.258+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001276695.3:c.258+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001276696.3:c.258+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001276760.3:c.258+6T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_001276761.3:c.258+6T>C - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000211742	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Apr 29, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000211742

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Apr 29, 2014)

germline

clinical testing

Citation Link

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

Details of each submission

From GeneDx, SCV000211742.10

#	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 denoted TP53 c.375+6T>C, or IVS4+6T>C, and consists of a T>C nucleotide substitution at the +6 position of intron 4 of the TP53 gene. Multiple in silico models predict this variant to weaken or destroy the nearby natural donor site and to possibly cause abnormal gene splicing. This variant has not, to our knowledge, been published in the literature as pathogenic or benign. TP53 c.375+6T>C occurs at a base that is moderately conserved across species and was not observed at a significant allele frequency in the NHLBI Exome Sequencing Project. Based on currently available information, it is unclear whether TP53 c.375+6T>C is pathogenic or benign. We consider it to be a variant of uncertain significance.

#	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: Feb 20, 2024

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