NM_000546.6(TP53):c.461G>A (p.Gly154Asp) AND Adrenocortical carcinoma, hereditary

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Sep 14, 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:: RCV003469152.1

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)

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
SCV004206231	Baylor Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 14, 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

SCV004206231

Baylor Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 14, 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, SCV004206231.1

#	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: Jan 13, 2025

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