NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys) AND not provided

Germline classification:: Likely pathogenic (2 submissions)
Last evaluated:: Mar 13, 2024
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV001547214.20

Allele description [Variation Report for NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)]

NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)

Gene:

HUWE1:HECT, UBA and WWE domain containing E3 ubiquitin protein ligase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.22

Genomic location:

Preferred name:

NM_031407.7(HUWE1):c.12067C>T (p.Arg4023Cys)

HGVS:

NC_000023.11:g.53537626G>A
NG_016261.2:g.154108C>T
NM_031407.7:c.12067C>TMANE SELECT
NP_113584.3:p.Arg4023Cys
NC_000023.10:g.53564587G>A
NM_031407.4:c.12067C>T
NM_031407.5:c.12067C>T
NM_031407.6:c.12067C>T
p.(Arg4023Cys)

Protein change:

R4023C; ARG4023CYS

Links:

OMIM: 300697.0009; dbSNP: rs1556914274

NCBI 1000 Genomes Browser:

rs1556914274

Molecular consequence:

NM_031407.7:c.12067C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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irregular chiasm C-roughest protein [Drosophila willistoni]
irregular chiasm C-roughest protein [Drosophila willistoni]
gi|195446878|ref|XP_002070963.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001766868	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Likely pathogenic (Mar 13, 2024)	germline	clinical testing	Citation Link,
SCV003917795	CeGaT Center for Human Genetics Tuebingen	criteria provided, single submitter (CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)	Likely pathogenic (Mar 1, 2023)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001766868

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Likely pathogenic
(Mar 13, 2024)

germline

clinical testing

Citation Link,

SCV003917795

CeGaT Center for Human Genetics Tuebingen

criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)

Likely pathogenic
(Mar 1, 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	2	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV001766868.2

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

Description

Not observed at significant frequency in large population cohorts (gnomAD); 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: 29180823, 36111624, 36307859, 31957018, 36353900)

#	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

From CeGaT Center for Human Genetics Tuebingen, SCV003917795.12

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	2	not provided	not provided	clinical testing	not provided

Description

HUWE1: PM2, PS4:Moderate, PP2, PP3, PP4

#	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		2	not provided	not provided	not provided

Last Updated: Oct 13, 2024

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