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NM_005188.4(CBL):c.1253T>C (p.Phe418Ser) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 6, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV002290763.2

Allele description [Variation Report for NM_005188.4(CBL):c.1253T>C (p.Phe418Ser)]

NM_005188.4(CBL):c.1253T>C (p.Phe418Ser)

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.1253T>C (p.Phe418Ser)
HGVS:
  • NC_000011.10:g.119278535T>C
  • NG_016808.1:g.77256T>C
  • NM_005188.4:c.1253T>CMANE SELECT
  • NP_005179.2:p.Phe418Ser
  • LRG_608t1:c.1253T>C
  • LRG_608:g.77256T>C
  • NC_000011.9:g.119149245T>C
  • NM_005188.2:c.1253T>C
  • NM_005188.3:c.1253T>C
Protein change:
F418S
Links:
dbSNP: rs772156285
NCBI 1000 Genomes Browser:
rs772156285
Molecular consequence:
  • NM_005188.4:c.1253T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002578784GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 6, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002578784.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35236052, 25510280, 20619386, 22315494, 22131879, 25952305, 20880116, 34026204, 22733026, 20644105, 23823657)

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

Last Updated: Sep 29, 2024