NM_007199.3(IRAK3):c.1461del (p.Asn487fs) AND Hirschsprung disease, susceptibility to, 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 1, 2015
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

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:: RCV000201309.1

Allele description [Variation Report for NM_007199.3(IRAK3):c.1461del (p.Asn487fs)]

NM_007199.3(IRAK3):c.1461del (p.Asn487fs)

Gene:

IRAK3:interleukin 1 receptor associated kinase 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

12q14.3

Genomic location:

Preferred name:

NM_007199.3(IRAK3):c.1461del (p.Asn487fs)

HGVS:

NC_000012.12:g.66247841del
NG_021194.1:g.63644del
NM_001142523.2:c.1278del
NM_007199.3:c.1461delMANE SELECT
NP_001135995.1:p.Asn426fs
NP_009130.2:p.Asn487fs
NC_000012.11:g.66641621del
NM_007199.2:c.1461del
NM_007199.3:c.1461delCMANE SELECT

Protein change:

N426fs

Links:

dbSNP: rs776951445

NCBI 1000 Genomes Browser:

rs776951445

Molecular consequence:

NM_001142523.2:c.1278del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_007199.3:c.1461del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Hirschsprung disease, susceptibility to, 1
Synonyms:: Hirschsprung disease 1; HSCR 1; RET-Related Hirschsprung Disease
Identifiers:: MONDO: MONDO:0007723; MedGen: C3888239; Orphanet: 388; OMIM: 142623

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000222730	Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville.	no assertion criteria provided	Uncertain significance (Apr 1, 2015)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000222730

Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville.

no assertion criteria provided

Uncertain significance
(Apr 1, 2015)

germline

research

Help

Summary from all submissions

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

Details of each submission

From Department of Genetics, Reproduction and Fetal Medicine., Institute of Biomedicine of Seville (IBIS), University Hospital Virgen del Rocío/CSIC/University of Seville., SCV000222730.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	research	not provided

#	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		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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