NM_002430.3(MN1):c.772_776del (p.His258fs) AND Chordoma

Clinical significance:Likely pathogenic (Last evaluated: May 21, 2019)

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:
RCV000786031.1

Allele description [Variation Report for NM_002430.3(MN1):c.772_776del (p.His258fs)]

NM_002430.3(MN1):c.772_776del (p.His258fs)

Gene:
MN1:MN1 proto-oncogene, transcriptional regulator [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
22q12.1
Genomic location:
Preferred name:
NM_002430.3(MN1):c.772_776del (p.His258fs)
HGVS:
  • NC_000022.11:g.27799768_27799772del
  • NG_023258.1:g.6727_6731del
  • NM_002430.3:c.772_776delMANE SELECT
  • NP_002421.3:p.His258fs
  • NC_000022.10:g.28195756_28195760del
  • NM_002430.3:c.772_776delCATTAMANE SELECT
Protein change:
H258fs
Links:
dbSNP: rs1568986076
NCBI 1000 Genomes Browser:
rs1568986076
Molecular consequence:
  • NM_002430.3:c.772_776del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Chordoma (CHDM)
Synonyms:
CHORDOMA, SUSCEPTIBILITY TO
Identifiers:
MONDO: MONDO:0008978; MedGen: C0008487; Orphanet: 178; OMIM: 215400; Human Phenotype Ontology: HP:0010762

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000924572Genome Sciences Centre, British Columbia Cancer Agencyno assertion criteria providedLikely pathogenic
(May 21, 2019)
somaticresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Genome Sciences Centre, British Columbia Cancer Agency, SCV000924572.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 14, 2021

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