NM_000546.6(TP53):c.893A>C (p.Glu298Ala) AND Adrenocortical carcinoma, hereditary

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 3, 2023
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:: RCV003474130.1

Allele description [Variation Report for NM_000546.6(TP53):c.893A>C (p.Glu298Ala)]

NM_000546.6(TP53):c.893A>C (p.Glu298Ala)

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.893A>C (p.Glu298Ala)

HGVS:

NC_000017.11:g.7673727T>G
NG_017013.2:g.18824A>C
NM_000546.6:c.893A>CMANE SELECT
NM_001126112.3:c.893A>C
NM_001126113.3:c.893A>C
NM_001126114.3:c.893A>C
NM_001126115.2:c.497A>C
NM_001126116.2:c.497A>C
NM_001126117.2:c.497A>C
NM_001126118.2:c.776A>C
NM_001276695.3:c.776A>C
NM_001276696.3:c.776A>C
NM_001276697.3:c.416A>C
NM_001276698.3:c.416A>C
NM_001276699.3:c.416A>C
NM_001276760.3:c.776A>C
NM_001276761.3:c.776A>C
NM_001407262.1:c.893A>C
NM_001407263.1:c.776A>C
NM_001407264.1:c.893A>C
NM_001407265.1:c.776A>C
NM_001407266.1:c.893A>C
NM_001407267.1:c.776A>C
NM_001407268.1:c.893A>C
NM_001407269.1:c.776A>C
NM_001407270.1:c.893A>C
NM_001407271.1:c.776A>C
NP_000537.3:p.Glu298Ala
NP_000537.3:p.Glu298Ala
NP_001119584.1:p.Glu298Ala
NP_001119584.1:p.Glu298Ala
NP_001119585.1:p.Glu298Ala
NP_001119585.1:p.Glu298Ala
NP_001119586.1:p.Glu298Ala
NP_001119586.1:p.Glu298Ala
NP_001119587.1:p.Glu166Ala
NP_001119587.1:p.Glu166Ala
NP_001119588.1:p.Glu166Ala
NP_001119588.1:p.Glu166Ala
NP_001119589.1:p.Glu166Ala
NP_001119589.1:p.Glu166Ala
NP_001119590.1:p.Glu259Ala
NP_001119590.1:p.Glu259Ala
NP_001263624.1:p.Glu259Ala
NP_001263625.1:p.Glu259Ala
NP_001263626.1:p.Glu139Ala
NP_001263627.1:p.Glu139Ala
NP_001263628.1:p.Glu139Ala
NP_001263689.1:p.Glu259Ala
NP_001263690.1:p.Glu259Ala
NP_001394191.1:p.Glu298Ala
NP_001394192.1:p.Glu259Ala
NP_001394193.1:p.Glu298Ala
NP_001394194.1:p.Glu259Ala
NP_001394195.1:p.Glu298Ala
NP_001394196.1:p.Glu259Ala
NP_001394197.1:p.Glu298Ala
NP_001394198.1:p.Glu259Ala
NP_001394199.1:p.Glu298Ala
NP_001394200.1:p.Glu259Ala
LRG_321t1:c.893A>C
LRG_321t2:c.893A>C
LRG_321t3:c.893A>C
LRG_321t4:c.893A>C
LRG_321t5:c.497A>C
LRG_321t6:c.497A>C
LRG_321t7:c.497A>C
LRG_321t8:c.776A>C
LRG_321:g.18824A>C
LRG_321:p.Glu298Ala
LRG_321p1:p.Glu298Ala
LRG_321p3:p.Glu298Ala
LRG_321p4:p.Glu298Ala
LRG_321p5:p.Glu166Ala
LRG_321p6:p.Glu166Ala
LRG_321p7:p.Glu166Ala
LRG_321p8:p.Glu259Ala
NC_000017.10:g.7577045T>G
NM_000546.5:c.893A>C
NM_001126112.2:c.893A>C
NM_001126113.2:c.893A>C
NM_001126114.2:c.893A>C
NM_001126115.1:c.497A>C
NM_001126116.1:c.497A>C
NM_001126117.1:c.497A>C
NM_001126118.1:c.776A>C
NR_176326.1:n.922A>C

Protein change:

E139A

Molecular consequence:

NM_000546.6:c.893A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.893A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.893A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.893A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.497A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.497A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.497A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.776A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.776A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.776A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.416A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.416A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.416A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.776A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.776A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407262.1:c.893A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407263.1:c.776A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407264.1:c.893A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407265.1:c.776A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407266.1:c.893A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407267.1:c.776A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407268.1:c.893A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407269.1:c.776A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407270.1:c.893A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_001407271.1:c.776A>C - missense variant - [Sequence Ontology: SO:0001583]
NR_176326.1:n.922A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Adrenocortical carcinoma, hereditary (ADCC)
Identifiers:: MONDO: MONDO:0008734; MedGen: C1859972; Orphanet: 1501; OMIM: 202300

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Gm33981 predicted gene, 33981 [Mus musculus]
Gm33981 predicted gene, 33981 [Mus musculus]
Gene ID:102637079

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004204246	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 3, 2023)	unknown	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

SCV004204246

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 3, 2023)

unknown

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	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Baylor Genetics, SCV004204246.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 30, 2023

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