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NM_000546.6(TP53):c.658T>C (p.Tyr220His) AND Adrenocortical carcinoma, hereditary

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Jan 2, 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:
RCV003476013.1

Allele description [Variation Report for NM_000546.6(TP53):c.658T>C (p.Tyr220His)]

NM_000546.6(TP53):c.658T>C (p.Tyr220His)

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.658T>C (p.Tyr220His)
HGVS:
  • NC_000017.11:g.7674873A>G
  • NG_017013.2:g.17678T>C
  • NM_000546.6:c.658T>CMANE SELECT
  • NM_001126112.3:c.658T>C
  • NM_001126113.3:c.658T>C
  • NM_001126114.3:c.658T>C
  • NM_001126115.2:c.262T>C
  • NM_001126116.2:c.262T>C
  • NM_001126117.2:c.262T>C
  • NM_001126118.2:c.541T>C
  • NM_001276695.3:c.541T>C
  • NM_001276696.3:c.541T>C
  • NM_001276697.3:c.181T>C
  • NM_001276698.3:c.181T>C
  • NM_001276699.3:c.181T>C
  • NM_001276760.3:c.541T>C
  • NM_001276761.3:c.541T>C
  • NP_000537.3:p.Tyr220His
  • NP_000537.3:p.Tyr220His
  • NP_001119584.1:p.Tyr220His
  • NP_001119585.1:p.Tyr220His
  • NP_001119586.1:p.Tyr220His
  • NP_001119587.1:p.Tyr88His
  • NP_001119588.1:p.Tyr88His
  • NP_001119589.1:p.Tyr88His
  • NP_001119590.1:p.Tyr181His
  • NP_001263624.1:p.Tyr181His
  • NP_001263625.1:p.Tyr181His
  • NP_001263626.1:p.Tyr61His
  • NP_001263627.1:p.Tyr61His
  • NP_001263628.1:p.Tyr61His
  • NP_001263689.1:p.Tyr181His
  • NP_001263690.1:p.Tyr181His
  • LRG_321t1:c.658T>C
  • LRG_321:g.17678T>C
  • LRG_321p1:p.Tyr220His
  • NC_000017.10:g.7578191A>G
  • NM_000546.4:c.658T>C
  • NM_000546.5:c.658T>C
Protein change:
Y181H
Links:
dbSNP: rs530941076
NCBI 1000 Genomes Browser:
rs530941076
Molecular consequence:
  • NM_000546.6:c.658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126112.3:c.658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126113.3:c.658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126114.3:c.658T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126115.2:c.262T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126116.2:c.262T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126117.2:c.262T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001126118.2:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276695.3:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276696.3:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276697.3:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276698.3:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276699.3:c.181T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276760.3:c.541T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001276761.3:c.541T>C - 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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004204263Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Jan 2, 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

Citations

PubMed

Nothing to display

Details of each submission

From Baylor Genetics, SCV004204263.1

#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 10, 2024