NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del) AND Severe congenital neutropenia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2013
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:: RCV000170607.1

Allele description [Variation Report for NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)]

NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)

Gene:

JAGN1:jagunal homolog 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

3p25.3

Genomic location:

Preferred name:

NM_032492.4(JAGN1):c.35_43del (p.Thr12_Gly14del)

HGVS:

NC_000003.12:g.9890757_9890765del
NG_041779.1:g.5171_5179del
NM_001363890.1:c.-234_-226del
NM_032492.4:c.35_43delMANE SELECT
NP_115881.3:p.Thr12_Gly14del
LRG_1228t1:c.35_43del
LRG_1228:g.5171_5179del
LRG_1228p1:p.Thr12_Gly14del
NC_000003.11:g.9932436_9932444del
NC_000003.11:g.9932441_9932449del
NM_032492.3:c.35_43delCCGACGGCA

Links:

OMIM: 616012.0005; dbSNP: rs587777731

NCBI 1000 Genomes Browser:

rs587777731

Molecular consequence:

NM_001363890.1:c.-234_-226del - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
NM_032492.4:c.35_43del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Severe congenital neutropenia (SCN)
Identifiers:: MONDO: MONDO:0018542; MedGen: C1853118; Orphanet: 42738; OMIM: PS202700

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000223159	Klein lab, Ludwig-Maximilians-University See additional submitters CeMM Research Center for Molecular Medicine; Austrian Academy of Sciences	criteria provided, single submitter (Submitter's publication)	Pathogenic (Jan 1, 2013)	germline	in vitro	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223159

Klein lab, Ludwig-Maximilians-University

See additional submitters

criteria provided, single submitter

(Submitter's publication)

Pathogenic
(Jan 1, 2013)

germline

in vitro

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	1	not provided	not provided	yes	in vitro

Citations

PubMed

JAGN1 deficiency causes aberrant myeloid cell homeostasis and congenital neutropenia.

Boztug K, Järvinen PM, Salzer E, Racek T, Mönch S, Garncarz W, Gertz EM, Schäffer AA, Antonopoulos A, Haslam SM, Schieck L, Puchałka J, Diestelhorst J, Appaswamy G, Lescoeur B, Giambruno R, Bigenzahn JW, Elling U, Pfeifer D, Conde CD, Albert MH, Welte K, et al.

Nat Genet. 2014 Sep;46(9):1021-7. doi: 10.1038/ng.3069. Epub 2014 Aug 17.

PubMed [citation]

PMID:: 25129144
PMCID:: PMC4829076

Details of each submission

From Klein lab, Ludwig-Maximilians-University, SCV000223159.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	yes	in vitro	PubMed (1)

Description

"Patient with this mutation was treated successfully with a bone marrow transplant at age 20"

PubMed [ID: 25129144]

Description

Neutropenia patients with mutations in JAGN1 respond poorly to treatment with recombinant human G-CSF

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

Last Updated: Feb 14, 2024

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