NM_000914.5(OPRM1):c.78del (p.Ser27fs) AND Tramadol response

Germline classification:: drug response (1 submission)
Last evaluated:: Apr 28, 2018
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:: RCV001029181.2

Allele description [Variation Report for NM_000914.5(OPRM1):c.78del (p.Ser27fs)]

NM_000914.5(OPRM1):c.78del (p.Ser27fs)

Gene:

OPRM1:opioid receptor mu 1 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6q25.2

Genomic location:

Preferred name:

NM_000914.5(OPRM1):c.78del (p.Ser27fs)

HGVS:

NC_000006.12:g.154039622del
NG_021208.2:g.34122del
NM_000914.5:c.78delMANE SELECT
NM_001008503.3:c.78del
NM_001008504.4:c.78del
NM_001008505.2:c.78del
NM_001145279.4:c.357del
NM_001145280.4:c.-11+28604del
NM_001145281.3:c.47+29063del
NM_001145282.2:c.78del
NM_001145283.2:c.78del
NM_001145284.3:c.78del
NM_001145285.3:c.78del
NM_001145286.3:c.78del
NM_001285522.1:c.78del
NM_001285523.3:c.78del
NM_001285524.1:c.357del
NP_000905.3:p.Ser27fs
NP_001008503.2:p.Ser27fs
NP_001008504.2:p.Ser27fs
NP_001008505.2:p.Ser27fs
NP_001138751.1:p.Ser120fs
NP_001138754.1:p.Ser27fs
NP_001138755.1:p.Ser27fs
NP_001138756.1:p.Ser27fs
NP_001138757.1:p.Ser27fs
NP_001138758.1:p.Ser27fs
NP_001272451.1:p.Ser27fs
NP_001272452.1:p.Ser27fs
NP_001272453.1:p.Ser120fs
LRG_1007t1:c.78del
LRG_1007t2:c.78del
LRG_1007:g.34122del
LRG_1007p1:p.Ser27fs
LRG_1007p2:p.Ser27fs
NC_000006.11:g.154360757del
NR_104348.1:n.212del
NR_104349.1:n.212del
NR_104350.1:n.212del
NR_104351.1:n.212del

Protein change:

S120fs

Links:

dbSNP: rs1583172146

NCBI 1000 Genomes Browser:

rs1583172146

Molecular consequence:

NM_000914.5:c.78del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001008503.3:c.78del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001008504.4:c.78del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001008505.2:c.78del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145279.4:c.357del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145282.2:c.78del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145283.2:c.78del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145284.3:c.78del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145285.3:c.78del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145286.3:c.78del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001285522.1:c.78del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001285523.3:c.78del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001285524.1:c.357del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001145280.4:c.-11+28604del - intron variant - [Sequence Ontology: SO:0001627]
NM_001145281.3:c.47+29063del - intron variant - [Sequence Ontology: SO:0001627]
NR_104348.1:n.212del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104349.1:n.212del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104350.1:n.212del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_104351.1:n.212del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Tramadol response
Synonyms:: Ultram response
Identifiers:: MedGen: CN078023

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001191967	Bruce Budowle Laboratory, University of North Texas Health Science Center	no assertion criteria provided	drug response (Apr 28, 2018) Condition: Tramadol response	somatic	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001191967

Bruce Budowle Laboratory, University of North Texas Health Science Center

no assertion criteria provided

drug response
(Apr 28, 2018)
Condition: Tramadol response

somatic

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	somatic	yes	199	not provided	not provided	not provided	not provided	research

Details of each submission

From Bruce Budowle Laboratory, University of North Texas Health Science Center, SCV001191967.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	199	not provided	not provided	research	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	somatic	yes	not provided	not provided	not provided		199	not provided	not provided	not provided

Last Updated: Apr 23, 2022

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