NM_005188.4(CBL):c.1100A>C (p.Gln367Pro) AND Inborn genetic diseases

This record was updated by the submitter. Please see the current version.

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Dec 12, 2017
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:: RCV001266923.3

Allele description

NM_005188.4(CBL):c.1100A>C (p.Gln367Pro)

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.1100A>C (p.Gln367Pro)

Other names:

p.Q367P:CAA>CCA

HGVS:

NC_000011.10:g.119278170A>C
NG_016808.1:g.76891A>C
NM_005188.4:c.1100A>CMANE SELECT
NP_005179.2:p.Gln367Pro
NP_005179.2:p.Gln367Pro
LRG_608t1:c.1100A>C
LRG_608:g.76891A>C
LRG_608p1:p.Gln367Pro
NC_000011.9:g.119148880A>C
NM_005188.2:c.1100A>C
NM_005188.3:c.1100A>C
NM_005188.4:c.1100A>C
P22681:p.Gln367Pro

Protein change:

Q367P; GLN367PRO

Links:

UniProtKB: P22681#VAR_064332; OMIM: 165360.0001; dbSNP: rs267606704

NCBI 1000 Genomes Browser:

rs267606704

Molecular consequence:

NM_005188.4:c.1100A>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001445104	Ambry Genetics	criteria provided, single submitter (Ambry exome assertion method (8-5-2015))	Likely pathogenic (Dec 12, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001445104

Ambry Genetics

criteria provided, single submitter

(Ambry exome assertion method (8-5-2015))

Likely pathogenic
(Dec 12, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Egyptian (Coptic)	germline	yes	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV001445104.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Egyptian (Coptic)	1	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Mar 22, 2025

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