NM_183075.3(CYP2U1):c.358T>C (p.Phe120Leu) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Oct 20, 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:: RCV000521418.1

Allele description [Variation Report for NM_183075.3(CYP2U1):c.358T>C (p.Phe120Leu)]

NM_183075.3(CYP2U1):c.358T>C (p.Phe120Leu)

Genes:

CYP2U1-AS1:CYP2U1 and SGMS2 antisense RNA 1 [Gene - HGNC]
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.358T>C (p.Phe120Leu)

HGVS:

NC_000004.12:g.107932001T>C
NG_007961.1:g.5441T>C
NM_183075.3:c.358T>CMANE SELECT
NP_898898.1:p.Phe120Leu
NC_000004.11:g.108853157T>C
NM_183075.2:c.358T>C
NR_125929.1:n.119A>G

Protein change:

F120L

Links:

dbSNP: rs763896315

NCBI 1000 Genomes Browser:

rs763896315

Molecular consequence:

NM_183075.3:c.358T>C - missense variant - [Sequence Ontology: SO:0001583]
NR_125929.1:n.119A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000621713	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Uncertain significance (Oct 20, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000621713

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Uncertain significance
(Oct 20, 2017)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000621713.2

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

Description

The F120L variant has not beenpublished as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant is observed in 12/23156 (0.05%) alleles from individuals of South Asian background, in large population cohorts (Lek et al., 2016). The F120L variant is a conservative amino acid substitution, which is not likely to impact secondaryprotein structure as these residues share similar properties. This substitution occurs at a position where amino acids with similar properties to Phenylalanine are tolerated across species. In silico analysis is inconsistent in itspredictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

#	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		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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