NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val) AND Intellectual disability

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Sep 10, 2020
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:: RCV001260731.3

Allele description [Variation Report for NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)]

NM_031407.7(HUWE1):c.12469C>G (p.Leu4157Val)

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.12469C>G (p.Leu4157Val)

HGVS:

NC_000023.11:g.53536209G>C
NG_016261.2:g.155525C>G
NM_031407.7:c.12469C>GMANE SELECT
NP_113584.3:p.Leu4157Val
NC_000023.10:g.53563170G>C
NM_031407.5:c.12469C>G
NM_031407.6:c.12469C>G
p.(Leu4157Val)

Protein change:

L4157V

Links:

dbSNP: rs1556912828

NCBI 1000 Genomes Browser:

rs1556912828

Molecular consequence:

NM_031407.7:c.12469C>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: Intellectual disability
Synonyms:: Intellectual functioning disability; intellectual disabilities; Intellectual developmental disorder
Identifiers:: MONDO: MONDO:0001071; MeSH: D008607; MedGen: C3714756; Human Phenotype Ontology: HP:0001249

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001437823	Diagnostic Laboratory, Strasbourg University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Likely pathogenic (Sep 10, 2020)	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

SCV001437823

Diagnostic Laboratory, Strasbourg University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Likely pathogenic
(Sep 10, 2020)

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	yes	1	not provided	not provided	1	not provided	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 Diagnostic Laboratory, Strasbourg University Hospital, SCV001437823.1

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

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

Last Updated: Oct 20, 2024

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