NM_031407.7(HUWE1):c.567+1G>C AND Intellectual disability, X-linked syndromic, Turner type

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 18, 2017
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:: RCV000497459.1

Allele description [Variation Report for NM_031407.7(HUWE1):c.567+1G>C]

NM_031407.7(HUWE1):c.567+1G>C

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.567+1G>C

HGVS:

NC_000023.11:g.53634235C>G
NG_016261.2:g.57499G>C
NM_031407.7:c.567+1G>CMANE SELECT
NC_000023.10:g.53661187C>G
NM_031407.6:c.567+1G>C
p.Ser169_Met189del

Links:

dbSNP: rs1557024919

NCBI 1000 Genomes Browser:

rs1557024919

Molecular consequence:

NM_031407.7:c.567+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000503005	Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 18, 2017)	de novo	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000503005

Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 18, 2017)

de novo

clinical testing

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	de novo	no	1	not provided	not provided	1	no	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, SCV000503005.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	no	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	de novo	no	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Jun 10, 2023

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