NM_031483.7(ITCH):c.1628AAG[1] (p.Glu544del) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2023
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:: RCV004763321.1

Allele description [Variation Report for NM_031483.7(ITCH):c.1628AAG[1] (p.Glu544del)]

NM_031483.7(ITCH):c.1628AAG[1] (p.Glu544del)

Gene:

ITCH:itchy E3 ubiquitin protein ligase [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

20q11.22

Genomic location:

Preferred name:

NM_031483.7(ITCH):c.1628AAG[1] (p.Glu544del)

HGVS:

NC_000020.11:g.34477830AAG[1]
NG_023206.1:g.119574AAG[1]
NM_001257137.3:c.1751AAG[1]
NM_001257138.3:c.1298AAG[1]
NM_001324197.2:c.1751AAG[1]
NM_001324198.2:c.1628AAG[1]
NM_031483.5:c.1631_1633del
NM_031483.7:c.1628AAG[1]MANE SELECT
NP_001244066.1:p.Glu585del
NP_001244067.1:p.Glu434del
NP_001311126.1:p.Glu585del
NP_001311127.1:p.Glu544del
NP_113671.3:p.Glu544del
LRG_354:g.119574AAG[1]
NC_000020.10:g.33065633_33065635del
NC_000020.10:g.33065635AAG[1]

Protein change:

E434del

Links:

dbSNP: rs2146457379

NCBI 1000 Genomes Browser:

rs2146457379

Molecular consequence:

NM_001257137.3:c.1751AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001257138.3:c.1298AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001324197.2:c.1751AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001324198.2:c.1628AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_031483.7:c.1628AAG[1] - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005371270	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Uncertain significance (Jun 14, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005371270

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Uncertain significance
(Jun 14, 2023)

germline

clinical testing

Citation Link

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	clinical testing

Details of each submission

From GeneDx, SCV005371270.1

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

Description

In-frame deletion of 1 amino acid in a non-repeat region; Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

#	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: Oct 20, 2024

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