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NM_000546.6(TP53):c.1010G>A (p.Arg337His) AND Adrenocortical carcinoma, hereditary

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Dec 28, 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:
RCV001375632.7

Allele description [Variation Report for NM_000546.6(TP53):c.1010G>A (p.Arg337His)]

NM_000546.6(TP53):c.1010G>A (p.Arg337His)

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.1010G>A (p.Arg337His)
HGVS:
  • NC_000017.11:g.7670699C>T
  • NG_017013.2:g.21852G>A
  • NM_000546.6:c.1010G>AMANE SELECT
  • NM_001126112.3:c.1010G>A
  • NM_001126113.3:c.*29G>A
  • NM_001126114.3:c.*117G>A
  • NM_001126115.2:c.614G>A
  • NM_001126116.2:c.*117G>A
  • NM_001126117.2:c.*29G>A
  • NM_001126118.2:c.893G>A
  • NM_001276695.3:c.*29G>A
  • NM_001276696.3:c.*117G>A
  • NM_001276697.3:c.533G>A
  • NM_001276698.3:c.*117G>A
  • NM_001276699.3:c.*29G>A
  • NM_001276760.3:c.893G>A
  • NM_001276761.3:c.893G>A
  • NP_000537.3:p.Arg337His
  • NP_000537.3:p.Arg337His
  • NP_001119584.1:p.Arg337His
  • NP_001119587.1:p.Arg205His
  • NP_001119590.1:p.Arg298His
  • NP_001263626.1:p.Arg178His
  • NP_001263689.1:p.Arg298His
  • NP_001263690.1:p.Arg298His
  • LRG_321t1:c.1010G>A
  • LRG_321:g.21852G>A
  • LRG_321p1:p.Arg337His
  • NC_000017.10:g.7574017C>T
  • NM_000546.4:c.1010G>A
  • NM_000546.5:c.1010G>A
  • P04637:p.Arg337His
  • p.R337H
Protein change:
R178H; ARG337HIS
Links:
UniProtKB: P04637#VAR_035016; OMIM: 191170.0035; dbSNP: rs121912664
NCBI 1000 Genomes Browser:
rs121912664
Molecular consequence:
  • NM_001126113.3:c.*29G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126114.3:c.*117G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126116.2:c.*117G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001126117.2:c.*29G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276695.3:c.*29G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276696.3:c.*117G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276698.3:c.*117G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001276699.3:c.*29G>A - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_000546.6:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.1010G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.614G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.533G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.893G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001572529Genome-Nilou Lab
no assertion criteria provided
Pathogenic
(Apr 27, 2021) 		germlineclinical testing

SCV004206232Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Pathogenic
(Dec 28, 2023) 		unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
Persiangermlineyes1not providednot providednot providednot providedclinical 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 Genome-Nilou Lab, SCV001572529.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Persian1not providednot providedclinical testingnot provided

Description

A 4-year-old girl with metastatic adrenocortical carcinoma in the right kidney & multiple gallstones. The father also has this type of cancer.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Baylor Genetics, SCV004206232.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024