NM_000546.6(TP53):c.461G>A (p.Gly154Asp) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 28, 2020
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:: RCV001558177.10

Allele description [Variation Report for NM_000546.6(TP53):c.461G>A (p.Gly154Asp)]

NM_000546.6(TP53):c.461G>A (p.Gly154Asp)

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.461G>A (p.Gly154Asp)

Other names:

NM_000546.5(TP53):c.461G>A

HGVS:

NC_000017.11:g.7675151C>T
NG_017013.2:g.17400G>A
NM_000546.6:c.461G>AMANE SELECT
NM_001126112.3:c.461G>A
NM_001126113.3:c.461G>A
NM_001126114.3:c.461G>A
NM_001126115.2:c.65G>A
NM_001126116.2:c.65G>A
NM_001126117.2:c.65G>A
NM_001126118.2:c.344G>A
NM_001276695.3:c.344G>A
NM_001276696.3:c.344G>A
NM_001276697.3:c.-17G>A
NM_001276698.3:c.-17G>A
NM_001276699.3:c.-17G>A
NM_001276760.3:c.344G>A
NM_001276761.3:c.344G>A
NP_000537.3:p.Gly154Asp
NP_000537.3:p.Gly154Asp
NP_001119584.1:p.Gly154Asp
NP_001119585.1:p.Gly154Asp
NP_001119586.1:p.Gly154Asp
NP_001119587.1:p.Gly22Asp
NP_001119588.1:p.Gly22Asp
NP_001119589.1:p.Gly22Asp
NP_001119590.1:p.Gly115Asp
NP_001263624.1:p.Gly115Asp
NP_001263625.1:p.Gly115Asp
NP_001263689.1:p.Gly115Asp
NP_001263690.1:p.Gly115Asp
LRG_321t1:c.461G>A
LRG_321:g.17400G>A
LRG_321p1:p.Gly154Asp
NC_000017.10:g.7578469C>T
NM_000546.4:c.461G>A
NM_000546.5:c.461G>A
P04637:p.Gly154Asp

Protein change:

G115D

Links:

UniProtKB: P04637#VAR_044832; dbSNP: rs762846821

NCBI 1000 Genomes Browser:

rs762846821

Molecular consequence:

NM_001276697.3:c.-17G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276698.3:c.-17G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_001276699.3:c.-17G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_000546.6:c.461G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.461G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.461G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.461G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.65G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.65G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.65G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.344G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.344G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.344G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.344G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.344G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001780069	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Sep 28, 2020)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001780069

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Sep 28, 2020)

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, SCV001780069.1

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

Description

Not observed at a significant frequency in large population cohorts (Lek 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Observed in individuals with leukemia, but germline vs. somatic status was not clarified (Dutta 2020); This variant is associated with the following publications: (PMID: 30309854, 32164171, 28861920, 29979965, 22678923, 19005564, 27891503, 27146902, 15221790, 15138567, 30840781)

#	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: Jan 13, 2025

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