NM_000546.6(TP53):c.376-2A>G AND Gallbladder cancer

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Oct 30, 2020
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:: RCV001374443.2

Allele description [Variation Report for NM_000546.6(TP53):c.376-2A>G]

NM_000546.6(TP53):c.376-2A>G

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.376-2A>G

HGVS:

NC_000017.11:g.7675238T>C
NG_017013.2:g.17313A>G
NM_000546.6:c.376-2A>GMANE SELECT
NM_001126112.3:c.376-2A>G
NM_001126113.3:c.376-2A>G
NM_001126114.3:c.376-2A>G
NM_001126115.2:c.-23A>G
NM_001126116.2:c.-23A>G
NM_001126117.2:c.-23A>G
NM_001126118.2:c.259-2A>G
NM_001276695.3:c.259-2A>G
NM_001276696.3:c.259-2A>G
NM_001276697.3:c.-104A>G
NM_001276698.3:c.-104A>G
NM_001276699.3:c.-104A>G
NM_001276760.3:c.259-2A>G
NM_001276761.3:c.259-2A>G
NM_001407262.1:c.376-2A>G
NM_001407263.1:c.259-2A>G
NM_001407264.1:c.376-2A>G
NM_001407265.1:c.259-2A>G
NM_001407266.1:c.376-2A>G
NM_001407267.1:c.259-2A>G
NM_001407268.1:c.376-2A>G
NM_001407269.1:c.259-2A>G
NM_001407270.1:c.376-2A>G
NM_001407271.1:c.259-2A>G
LRG_321t1:c.376-2A>G
LRG_321t5:c.-23A>G
LRG_321t6:c.-23A>G
LRG_321t7:c.-23A>G
LRG_321:g.17313A>G
NC_000017.10:g.7578556T>C
NM_000546.4:c.376-2A>G
NM_000546.5:c.376-2A>G
NM_001126115.1:c.-23A>G
NM_001126116.1:c.-23A>G
NM_001126117.1:c.-23A>G

Links:

dbSNP: rs786202799

NCBI 1000 Genomes Browser:

rs786202799

Molecular consequence:

NM_001126115.2:c.-23A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001126116.2:c.-23A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001126117.2:c.-23A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276697.3:c.-104A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276698.3:c.-104A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276699.3:c.-104A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000546.6:c.376-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001126112.3:c.376-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001126113.3:c.376-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001126114.3:c.376-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001126118.2:c.259-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001276695.3:c.259-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001276696.3:c.259-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001276760.3:c.259-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001276761.3:c.259-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407262.1:c.376-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407263.1:c.259-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407264.1:c.376-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407265.1:c.259-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407266.1:c.376-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407267.1:c.259-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407268.1:c.376-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407269.1:c.259-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407270.1:c.376-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_001407271.1:c.259-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Functional consequence:

sequence_variant_affecting_splicing [Sequence Ontology: SO:1000071] - Comment(s)

Condition(s)

Name:: Gallbladder cancer
Identifiers:: MONDO: MONDO:0005411; MedGen: C0153452

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001571406	Institute of Medical Sciences, Banaras Hindu University	no assertion criteria provided	Likely pathogenic (Oct 30, 2020)	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001571406

Institute of Medical Sciences, Banaras Hindu University

no assertion criteria provided

Likely pathogenic
(Oct 30, 2020)

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	not provided	not provided	not provided	not provided	not provided	research

Details of each submission

From Institute of Medical Sciences, Banaras Hindu University, SCV001571406.1

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

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

Last Updated: Sep 29, 2024

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