NM_003482.3(KMT2D):c.11047C>T (p.Gln3683Ter) AND Cavernous sinus meningioma

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:
RCV000786035.1

Allele description [Variation Report for NM_003482.3(KMT2D):c.11047C>T (p.Gln3683Ter)]

NM_003482.3(KMT2D):c.11047C>T (p.Gln3683Ter)

Gene:
KMT2D:lysine methyltransferase 2D [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.12
Genomic location:
Preferred name:
NM_003482.3(KMT2D):c.11047C>T (p.Gln3683Ter)
HGVS:
  • NC_000012.12:g.49033658G>A
  • NG_027827.1:g.26667C>T
  • NM_003482.3:c.11047C>T
  • NP_003473.3:p.Gln3683Ter
  • NC_000012.11:g.49427441G>A
Protein change:
Q3683*
Links:
dbSNP: rs1565779530
NCBI 1000 Genomes Browser:
rs1565779530
Molecular consequence:
  • NM_003482.3:c.11047C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Cavernous sinus meningioma
Identifiers:
MONDO: MONDO:0002996; MedGen: C1332865

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000924576Genome 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, SCV000924576.1

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

Last Updated: Oct 8, 2021

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