NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) AND Medulloblastoma

Clinical significance:Pathogenic (Last evaluated: Feb 1, 1999)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000006520.6

Allele description [Variation Report for NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)]

NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)

Gene:
PTCH2:patched 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
1p34.1
Genomic location:
Preferred name:
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer)
HGVS:
  • NC_000001.10:g.45295116_45295117del
  • NC_000001.11:g.44829445GA[1]
  • NG_013369.1:g.18498CT[1]
  • NM_001166292.2:c.1172_1173del
  • NM_003738.5:c.1172_1173delMANE SELECT
  • NP_001159764.1:p.Phe390_Ser391insTer
  • NP_003729.3:p.Phe390_Ser391insTer
  • NC_000001.10:g.45295116_45295117del
  • NC_000001.10:g.45295116_45295117delAG
  • NC_000001.10:g.45295117GA[1]
  • NM_001166292.1:c.1172_1173delCT
  • NM_003738.4:c.1172_1173del
  • NM_003738.4:c.1172_1173delCT
Links:
OMIM: 603673.0001; OMIM: 603673.0004; dbSNP: rs56126236
NCBI 1000 Genomes Browser:
rs56126236
Molecular consequence:
  • NM_001166292.2:c.1172_1173del - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003738.5:c.1172_1173del - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Medulloblastoma (MDB)
Synonyms:
Medulloblastoma, somatic
Identifiers:
MONDO: MONDO:0007959; MeSH: D008527; MedGen: C0025149; Orphanet: 616; OMIM: 155255; Human Phenotype Ontology: HP:0002885

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000026703OMIMno assertion criteria providedPathogenic
(Feb 1, 1999)
somaticliterature only

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

Summary from all submissions

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

Citations

PubMed

Isolation and characterization of human patched 2 (PTCH2), a putative tumour suppressor gene inbasal cell carcinoma and medulloblastoma on chromosome 1p32.

Smyth I, Narang MA, Evans T, Heimann C, Nakamura Y, Chenevix-Trench G, Pietsch T, Wicking C, Wainwright BJ.

Hum Mol Genet. 1999 Feb;8(2):291-7.

PubMed [citation]
PMID:
9931336

Details of each submission

From OMIM, SCV000026703.3

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

Description

In a sporadic medulloblastoma (155255), Smyth et al. (1999) identified a somatic 2-bp deletion in PTCH2 at nucleotide 1170 (c.1170delCT) , which resulted in premature termination of the protein. Germline DNA was unavailable; thus, it could not be determined if loss of the other PTCH2 allele on 1p had occurred.

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

Last Updated: Jun 6, 2021

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