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NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) AND Pilomatrixoma

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Apr 1, 1999
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:
RCV000019139.6

Allele description [Variation Report for NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)]

NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr)

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>A (p.Ser33Tyr)
HGVS:
  • NC_000003.12:g.41224610C>A
  • NG_013302.2:g.30160C>A
  • NM_001098209.2:c.98C>A
  • NM_001098210.2:c.98C>A
  • NM_001330729.2:c.77C>A
  • NM_001904.4:c.98C>AMANE SELECT
  • NP_001091679.1:p.Ser33Tyr
  • NP_001091680.1:p.Ser33Tyr
  • NP_001317658.1:p.Ser26Tyr
  • NP_001895.1:p.Ser33Tyr
  • LRG_1108t1:c.98C>A
  • LRG_1108:g.30160C>A
  • LRG_1108p1:p.Ser33Tyr
  • NC_000003.11:g.41266101C>A
  • P35222:p.Ser33Tyr
Protein change:
S26Y; SER33TYR
Links:
UniProtKB: P35222#VAR_017619; OMIM: 116806.0002; dbSNP: rs121913400
NCBI 1000 Genomes Browser:
rs121913400
Molecular consequence:
  • NM_001098209.2:c.98C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001098210.2:c.98C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330729.2:c.77C>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001904.4:c.98C>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Pilomatrixoma (PTR)
Synonyms:
EPITHELIOMA CALCIFICANS OF MALHERBE; Pilomatricoma; Calcifying epithelioma of Malherbe; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0007564; MeSH: D018296; MedGen: C0206711; Orphanet: 91414; OMIM: 132600; Human Phenotype Ontology: HP:0030434

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039427OMIM
no assertion criteria provided
Pathogenic
(Apr 1, 1999) 		somaticliterature only

PubMed (3)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Activation of beta-catenin-Tcf signaling in colon cancer by mutations in beta-catenin or APC.

Morin PJ, Sparks AB, Korinek V, Barker N, Clevers H, Vogelstein B, Kinzler KW.

Science. 1997 Mar 21;275(5307):1787-90.

PubMed [citation]
PMID:
9065402

Beta-catenin mutations in cell lines established from human colorectal cancers.

Ilyas M, Tomlinson IP, Rowan A, Pignatelli M, Bodmer WF.

Proc Natl Acad Sci U S A. 1997 Sep 16;94(19):10330-4.

PubMed [citation]
PMID:
9294210
PMCID:
PMC23362
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000039427.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

See 116806.0001 and Morin et al. (1997). One of the 5 point mutations found by Ilyas et al. (1997) in colorectal cancer (see 114500) cell lines was a ser33-to-tyr mutation due to a C-to-A transversion in exon 3 of the CTNNB1 gene. The mutation was present in heterozygous form.

Chan et al. (1999) identified this mutation in 2 of 16 pilomatricomas (132600).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 16, 2024