NM_002547.2(OPHN1):c.115G>A (p.Val39Ile) AND not provided

replaced

Germline classification:: Benign (1 submission)
Last evaluated:: May 29, 2014
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:: RCV000127288.1

Allele description

NM_002547.2(OPHN1):c.115G>A (p.Val39Ile)

Gene:

OPHN1:oligophrenin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq12

Genomic location:

Preferred name:

NM_002547.2(OPHN1):c.115G>A (p.Val39Ile)

HGVS:

NC_000023.11:g.68432906C>T
NG_008960.1:g.5552G>A
NM_002547.2:c.115G>A
NP_002538.1:p.Val39Ile
NC_000023.10:g.67652748C>T
p.V39I:GTA>ATA

Protein change:

V39I

Links:

dbSNP: rs41303733

GMAF:

0.0299(T), 41303733

NCBI 1000 Genomes Browser:

rs41303733

Molecular consequence:

NM_002547.2:c.115G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:: MedGen: CN221809

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000170849	GeneDx	criteria provided, single submitter (GeneDx Variant Classification (06012015))	Benign (May 29, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000170849

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification (06012015))

Benign
(May 29, 2014)

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	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV000170849.2

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

Description

The variant is found in JOUBERT-BRAIN,BRAINMALFORMATION panel(s).

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

Last Updated: May 14, 2016

ClinVar

Relating variation to medicine