NM_000546.6(TP53):c.574C>G (p.Gln192Glu) AND Adrenocortical carcinoma, hereditary

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: May 26, 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:: RCV003466454.1

Allele description [Variation Report for NM_000546.6(TP53):c.574C>G (p.Gln192Glu)]

NM_000546.6(TP53):c.574C>G (p.Gln192Glu)

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.574C>G (p.Gln192Glu)

HGVS:

NC_000017.11:g.7674957G>C
NG_017013.2:g.17594C>G
NM_000546.6:c.574C>GMANE SELECT
NM_001126112.3:c.574C>G
NM_001126113.3:c.574C>G
NM_001126114.3:c.574C>G
NM_001126115.2:c.178C>G
NM_001126116.2:c.178C>G
NM_001126117.2:c.178C>G
NM_001126118.2:c.457C>G
NM_001276695.3:c.457C>G
NM_001276696.3:c.457C>G
NM_001276697.3:c.97C>G
NM_001276698.3:c.97C>G
NM_001276699.3:c.97C>G
NM_001276760.3:c.457C>G
NM_001276761.3:c.457C>G
NM_001407262.1:c.574C>G
NM_001407263.1:c.457C>G
NM_001407264.1:c.574C>G
NM_001407265.1:c.457C>G
NM_001407266.1:c.574C>G
NM_001407267.1:c.457C>G
NM_001407268.1:c.574C>G
NM_001407269.1:c.457C>G
NM_001407270.1:c.574C>G
NM_001407271.1:c.457C>G
NP_000537.3:p.Gln192Glu
NP_000537.3:p.Gln192Glu
NP_001119584.1:p.Gln192Glu
NP_001119584.1:p.Gln192Glu
NP_001119585.1:p.Gln192Glu
NP_001119585.1:p.Gln192Glu
NP_001119586.1:p.Gln192Glu
NP_001119586.1:p.Gln192Glu
NP_001119587.1:p.Gln60Glu
NP_001119587.1:p.Gln60Glu
NP_001119588.1:p.Gln60Glu
NP_001119588.1:p.Gln60Glu
NP_001119589.1:p.Gln60Glu
NP_001119589.1:p.Gln60Glu
NP_001119590.1:p.Gln153Glu
NP_001119590.1:p.Gln153Glu
NP_001263624.1:p.Gln153Glu
NP_001263625.1:p.Gln153Glu
NP_001263626.1:p.Gln33Glu
NP_001263627.1:p.Gln33Glu
NP_001263628.1:p.Gln33Glu
NP_001263689.1:p.Gln153Glu
NP_001263690.1:p.Gln153Glu
NP_001394191.1:p.Gln192Glu
NP_001394192.1:p.Gln153Glu
NP_001394193.1:p.Gln192Glu
NP_001394194.1:p.Gln153Glu
NP_001394195.1:p.Gln192Glu
NP_001394196.1:p.Gln153Glu
NP_001394197.1:p.Gln192Glu
NP_001394198.1:p.Gln153Glu
NP_001394199.1:p.Gln192Glu
NP_001394200.1:p.Gln153Glu
LRG_321t1:c.574C>G
LRG_321t2:c.574C>G
LRG_321t3:c.574C>G
LRG_321t4:c.574C>G
LRG_321t5:c.178C>G
LRG_321t6:c.178C>G
LRG_321t7:c.178C>G
LRG_321t8:c.457C>G
LRG_321:g.17594C>G
LRG_321:p.Gln192Glu
LRG_321p1:p.Gln192Glu
LRG_321p3:p.Gln192Glu
LRG_321p4:p.Gln192Glu
LRG_321p5:p.Gln60Glu
LRG_321p6:p.Gln60Glu
LRG_321p7:p.Gln60Glu
LRG_321p8:p.Gln153Glu
NC_000017.10:g.7578275G>C
NM_000546.5:c.574C>G
NM_001126112.2:c.574C>G
NM_001126113.2:c.574C>G
NM_001126114.2:c.574C>G
NM_001126115.1:c.178C>G
NM_001126116.1:c.178C>G
NM_001126117.1:c.178C>G
NM_001126118.1:c.457C>G

Protein change:

Q153E

Molecular consequence:

NM_000546.6:c.574C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126112.3:c.574C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126113.3:c.574C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126114.3:c.574C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126115.2:c.178C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126116.2:c.178C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126117.2:c.178C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001126118.2:c.457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276695.3:c.457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276696.3:c.457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276697.3:c.97C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276698.3:c.97C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276699.3:c.97C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276760.3:c.457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001276761.3:c.457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407262.1:c.574C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407263.1:c.457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407264.1:c.574C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407265.1:c.457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407266.1:c.574C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407267.1:c.457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407268.1:c.574C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407269.1:c.457C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407270.1:c.574C>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001407271.1:c.457C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV004206276	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (May 26, 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

SCV004206276

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(May 26, 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, SCV004206276.1

#	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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Relating variation to medicine