NM_003611.3(OFD1):c.2408A>G (p.Glu803Gly) AND History of neurodevelopmental disorder

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Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 1, 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:: RCV000719598.1

Allele description

NM_003611.3(OFD1):c.2408A>G (p.Glu803Gly)

Gene:

OFD1:OFD1 centriole and centriolar satellite protein [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

Preferred name:

NM_003611.3(OFD1):c.2408A>G (p.Glu803Gly)

HGVS:

NC_000023.11:g.13762364A>G
NG_008872.1:g.32652A>G
NM_001330209.2:c.2288A>G
NM_001330210.2:c.1988A>G
NM_003611.3:c.2408A>GMANE SELECT
NP_001317138.1:p.Glu763Gly
NP_001317139.1:p.Glu663Gly
NP_003602.1:p.Glu803Gly
NC_000023.10:g.13780483A>G
NM_003611.2:c.2408A>G

Protein change:

E663G

Links:

dbSNP: rs1569155243

NCBI 1000 Genomes Browser:

rs1569155243

Molecular consequence:

NM_001330209.2:c.2288A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001330210.2:c.1988A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_003611.3:c.2408A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Name:: History of neurodevelopmental disorder
Identifiers:: MedGen: C2711754

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SLC26A2 [Ovis aries]
SLC26A2 [Ovis aries]
Gene ID:100294558

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000850467	Ambry Genetics	criteria provided, single submitter (Ambry Autosomal Dominant and X-Linked criteria (10/2015))	Uncertain significance (Feb 1, 2017)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000850467

Ambry Genetics

criteria provided, single submitter

(Ambry Autosomal Dominant and X-Linked criteria (10/2015))

Uncertain significance
(Feb 1, 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	unknown	1	not provided	not provided	1	not provided	clinical testing

Details of each submission

From Ambry Genetics, SCV000850467.3

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

Description

The p.E803G variant (also known as c.2408A>G), located in coding exon 18 of the OFD1 gene, results from an A to G substitution at nucleotide position 2408. The glutamic acid at codon 803 is replaced by glycine, an amino acid with similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Apr 23, 2022

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