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NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) AND ADRENAL CORTICAL NEOPLASM

Germline classification:
other (1 submission)
Last evaluated:
May 1, 2016
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000505658.2

Allele description [Variation Report for NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)]

NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)

Genes:
LOC126806658:BRD4-independent group 4 enhancer GRCh37_chr3:41265899-41267098 [Gene]
CTNNB1:catenin beta 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p22.1
Genomic location:
Preferred name:
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe)
HGVS:
  • NC_000003.12:g.41224610C>T
  • NG_013302.2:g.30160C>T
  • NM_001098209.2:c.98C>T
  • NM_001098210.2:c.98C>T
  • NM_001330729.2:c.77C>T
  • NM_001904.4:c.98C>TMANE SELECT
  • NP_001091679.1:p.Ser33Phe
  • NP_001091680.1:p.Ser33Phe
  • NP_001317658.1:p.Ser26Phe
  • NP_001895.1:p.Ser33Phe
  • LRG_1108t1:c.98C>T
  • LRG_1108:g.30160C>T
  • LRG_1108p1:p.Ser33Phe
  • NC_000003.11:g.41266101C>T
  • P35222:p.Ser33Phe
  • p.S33F
Protein change:
S26F; SER33PHE
Links:
UniProtKB: P35222#VAR_017617; OMIM: 116806.0007; dbSNP: rs121913400
NCBI 1000 Genomes Browser:
rs121913400
Molecular consequence:
  • NM_001098209.2:c.98C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001098210.2:c.98C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330729.2:c.77C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001904.4:c.98C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
ADRENAL CORTICAL NEOPLASM
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000599911Donald Williams Parsons Laboratory, Baylor College of Medicine - CSER-BASIC3

See additional submitters

no assertion criteria provided
other
(May 1, 2016) 		somaticclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors.

Parsons DW, Roy A, Yang Y, Wang T, Scollon S, Bergstrom K, Kerstein RA, Gutierrez S, Petersen AK, Bavle A, Lin FY, López-Terrada DH, Monzon FA, Hicks MJ, Eldin KW, Quintanilla NM, Adesina AM, Mohila CA, Whitehead W, Jea A, Vasudevan SA, Nuchtern JG, et al.

JAMA Oncol. 2016 May 1;2(5):616-624. doi: 10.1001/jamaoncol.2015.5699.

PubMed [citation]
PMID:
26822237
PMCID:
PMC5471125

Details of each submission

From Donald Williams Parsons Laboratory, Baylor College of Medicine - CSER-BASIC3, SCV000599911.1

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

Last Updated: May 12, 2024