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NM_031407.7(HUWE1):c.3712G>A (p.Ala1238Thr) AND Intellectual disability, X-linked syndromic, Turner type

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 20, 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:
RCV003223426.2

Allele description [Variation Report for NM_031407.7(HUWE1):c.3712G>A (p.Ala1238Thr)]

NM_031407.7(HUWE1):c.3712G>A (p.Ala1238Thr)

Genes:
LOC126863263:BRD4-independent group 4 enhancer GRCh37_chrX:53619238-53620437 [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.3712G>A (p.Ala1238Thr)
HGVS:
  • NC_000023.11:g.53593393C>T
  • NG_016261.2:g.98341G>A
  • NM_031407.7:c.3712G>AMANE SELECT
  • NP_113584.3:p.Ala1238Thr
  • NC_000023.10:g.53620353C>T
  • NM_031407.4:c.3712G>A
Protein change:
A1238T
Links:
dbSNP: rs371644969
NCBI 1000 Genomes Browser:
rs371644969
Molecular consequence:
  • NM_031407.7:c.3712G>A - missense variant - [Sequence Ontology: SO:0001583]

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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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003918952Duke University Health System Sequencing Clinic, Duke University Health System
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Apr 20, 2023) 		maternalresearch

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedresearch

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 Duke University Health System Sequencing Clinic, Duke University Health System, SCV003918952.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 24, 2023