NM_005188.4(CBL):c.1228-2A>G AND Malignant germ cell tumor of ovary

Clinical significance:Likely pathogenic (Last evaluated: Apr 4, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000722039.1

Allele description [Variation Report for NM_005188.4(CBL):c.1228-2A>G]

NM_005188.4(CBL):c.1228-2A>G

Gene:
CBL:Cbl proto-oncogene [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_005188.4(CBL):c.1228-2A>G
HGVS:
  • NC_000011.10:g.119278508A>G
  • NG_016808.1:g.77229A>G
  • NM_005188.3:c.1228-2A>G
  • NM_005188.4:c.1228-2A>GMANE SELECT
  • LRG_608t1:c.1228-2A>G
  • LRG_608:g.77229A>G
  • NC_000011.9:g.119149218A>G
  • NM_005188.2:c.1228-2A>G
Nucleotide change:
IVS8AS, A-G, -2
Links:
OMIM: 165360.0006; dbSNP: rs727504426
NCBI 1000 Genomes Browser:
rs727504426
Molecular consequence:
  • NM_005188.3:c.1228-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_005188.4:c.1228-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Malignant germ cell tumor of ovary
Synonyms:
Ovarian germ cell cancer
Identifiers:
MONDO: MONDO:0018171; MedGen: C0346180; Orphanet: 35807; OMIM: 603737

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000853216St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospitalcriteria provided, single submitter
Likely pathogenic
(Apr 4, 2017)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital, SCV000853216.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This is a splice site alteration in which an A is replaced by a G in intron 8, two nucleotides upstream from the beginning of exon 9. Classification criteria: PVS1, PM2.

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

Last Updated: Oct 30, 2021

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