NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His) AND Intellectual disability, X-linked syndromic, Turner type

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Aug 24, 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:: RCV000415182.1

Allele description [Variation Report for NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His)]

NM_031407.7(HUWE1):c.3239G>A (p.Arg1080His)

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.3239G>A (p.Arg1080His)

HGVS:

NC_000023.11:g.53595328C>T
NG_016261.2:g.96406G>A
NM_031407.7:c.3239G>AMANE SELECT
NP_113584.3:p.Arg1080His
NC_000023.10:g.53622288C>T
NM_031407.5:c.3239G>A

Protein change:

R1080H

Links:

dbSNP: rs1057518704

NCBI 1000 Genomes Browser:

rs1057518704

Molecular consequence:

NM_031407.7:c.3239G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Intellectual disability, X-linked syndromic, Turner type (MRXST)
Synonyms:: MENTAL RETARDATION AND MACROCEPHALY SYNDROME; Mental retardation, X-linked, syndromic, Turner type; X-linked intellectual disability, Turner type; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010407; MedGen: C2678046; Orphanet: 3056; Orphanet: 85328; OMIM: 309590

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000328813	Baylor Genetics	no assertion criteria provided	Likely pathogenic (Aug 24, 2015)	de novo	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000328813

Baylor Genetics

no assertion criteria provided

Likely pathogenic
(Aug 24, 2015)

de novo

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Hispanic Americans	de novo	yes	1	1	not provided	not provided	not provided	clinical testing

Details of each submission

From Baylor Genetics, SCV000328813.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Hispanic Americans	1	not provided	not provided	clinical testing (GTR000508680.4)	not provided

Description

Our lab has reported dual molecular diagnoses of MED13L (NM_015335.4, c.4956-2A>C) and HUWE1 (NM_031407.5, c.3239G>A) for this individual with developmental delay, intellectual disability, and right club foot. New evidence suggests that haploinsufficiency of MED13L can cause intellectual disability, developmental delay, facial abnormalities, hypotonia, and autism.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	yes	not provided	not provided	not provided	(GTR000508680.4)	1	not provided	1	not provided

Last Updated: Apr 23, 2022

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