NM_080632.3(UPF3B):c.672A>C (p.Glu224Asp) AND Intellectual disability

Germline classification:: Uncertain significance (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:: RCV001260815.2

Allele description [Variation Report for NM_080632.3(UPF3B):c.672A>C (p.Glu224Asp)]

NM_080632.3(UPF3B):c.672A>C (p.Glu224Asp)

Gene:

UPF3B:UPF3B regulator of nonsense mediated mRNA decay [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq24

Genomic location:

Preferred name:

NM_080632.3(UPF3B):c.672A>C (p.Glu224Asp)

HGVS:

NC_000023.11:g.119841211T>G
NG_009241.1:g.16795A>C
NM_023010.4:c.672A>C
NM_080632.3:c.672A>CMANE SELECT
NP_075386.1:p.Glu224Asp
NP_542199.1:p.Glu224Asp
NC_000023.10:g.118975174T>G
NM_080632.2:c.672A>C

Protein change:

E224D

Links:

dbSNP: rs2056158006

NCBI 1000 Genomes Browser:

rs2056158006

Molecular consequence:

NM_023010.4:c.672A>C - missense variant - [Sequence Ontology: SO:0001583]
NM_080632.3:c.672A>C - 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

Recent activity

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lysophospholipase-like protein 1 isoform X3 [Homo sapiens]
lysophospholipase-like protein 1 isoform X3 [Homo sapiens]
gi|2217263932|ref|XP_047301094.1|

Protein

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001437911	Diagnostic Laboratory, Strasbourg University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Sep 10, 2020)	maternal	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

SCV001437911

Diagnostic Laboratory, Strasbourg University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Sep 10, 2020)

maternal

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	maternal	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, SCV001437911.1

#	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	maternal	yes	1	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 30, 2023

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