NM_005188.4(CBL):c.1228-10dup AND Rasopathy

Clinical significance:Benign (Last evaluated: Dec 4, 2020)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001511169.1

Allele description [Variation Report for NM_005188.4(CBL):c.1228-10dup]

NM_005188.4(CBL):c.1228-10dup

Gene:
CBL:Cbl proto-oncogene [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
11q23.3
Genomic location:
Preferred name:
NM_005188.4(CBL):c.1228-10dup
HGVS:
  • NC_000011.10:g.119278500dup
  • NG_016808.1:g.77221dup
  • NM_005188.4:c.1228-10dupMANE SELECT
  • LRG_608t1:c.1228-10dup
  • LRG_608:g.77221dup
  • NC_000011.9:g.119149208_119149209insT
  • NC_000011.9:g.119149210dup
  • NM_005188.2:c.1228-10_1228-9insT
  • NM_005188.3:c.1228-10dup
  • NM_005188.3:c.1228-10dupT
  • c.1228-10_1228-9insT
Links:
dbSNP: rs397517078
NCBI 1000 Genomes Browser:
rs397517078

Condition(s)

Name:
Rasopathy
Synonyms:
rasopathies; Noonan spectrum disorder
Identifiers:
MONDO: MONDO:0021060; MedGen: CN166718

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001718368Invitaecriteria provided, single submitter
Benign
(Dec 4, 2020)
germlineclinical testing

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

Summary from all submissions

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

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240-242.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Invitae, SCV001718368.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jul 7, 2021

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