NM_183075.3(CYP2U1):c.604G>A (p.Glu202Lys) AND multiple conditions

Germline classification:: Pathogenic (1 submission)
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:: RCV001258323.2

Allele description [Variation Report for NM_183075.3(CYP2U1):c.604G>A (p.Glu202Lys)]

NM_183075.3(CYP2U1):c.604G>A (p.Glu202Lys)

Gene:

CYP2U1:cytochrome P450 family 2 subfamily U member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

4q25

Genomic location:

Preferred name:

NM_183075.3(CYP2U1):c.604G>A (p.Glu202Lys)

HGVS:

NC_000004.12:g.107945083G>A
NG_007961.1:g.18523G>A
NM_183075.3:c.604G>AMANE SELECT
NP_898898.1:p.Glu202Lys
NC_000004.11:g.108866239G>A

Protein change:

E202K

Links:

dbSNP: rs1733648064

NCBI 1000 Genomes Browser:

rs1733648064

Molecular consequence:

NM_183075.3:c.604G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Seizure
Synonyms:: Seizures
Identifiers:: MedGen: C0036572; Human Phenotype Ontology: HP:0001250

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

Name:: Lower limb spasticity
Identifiers:: MedGen: C1271100; Human Phenotype Ontology: HP:0002061

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001365403	Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS)	no assertion criteria provided	Pathogenic	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001365403

Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS)

no assertion criteria provided

Pathogenic

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
South Asia	germline	yes	2	not provided	not provided	not provided	not provided	research
South Asia	germline	no	3	not provided	not provided	not provided	not provided	research
South Asian	germline	yes	2	not provided	not provided	not provided	not provided	research

Details of each submission

From Human Molecular Genetics and Metabolic Disorders, Pakistan Institute for Engineering and Applied Science (PIEAS), SCV001365403.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	South Asia	1	not provided	not provided	research	not provided
2	South Asia	1	not provided	not provided	research	not provided
3	South Asia	1	not provided	not provided	research	not provided
4	South Asia	1	not provided	not provided	research	not provided
5	South Asia	1	not provided	not provided	research	not provided
6	South Asian	1	not provided	not provided	research	not provided
7	South Asian	1	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
2	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
3	germline	no	not provided	not provided	not provided		1	not provided	not provided	not provided
4	germline	no	not provided	not provided	not provided		1	not provided	not provided	not provided
5	germline	no	not provided	not provided	not provided		1	not provided	not provided	not provided
6	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided
7	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 30, 2023

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