NM_003611.2(OFD1):c.2841_2847delAAAAGAC (p.Lys948Asnfs) AND Oral-facial-digital syndrome

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Germline classification:: Pathogenic (1 submission)
Last evaluated:: Feb 28, 2013
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:: RCV000034005.2

Allele description

NM_003611.2(OFD1):c.2841_2847delAAAAGAC (p.Lys948Asnfs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xp22.2

Genomic location:

Preferred name:

NM_003611.2(OFD1):c.2841_2847delAAAAGAC (p.Lys948Asnfs)

HGVS:

NC_000023.11:g.13768137_13768143delAAAAGAC
NG_008872.1:g.38425_38431delAAAAGAC
NM_003611.2:c.2841_2847delAAAAGAC
NP_003602.1:p.Lys948Asnfs
NC_000023.10:g.13786256_13786262delAAAAGAC

Links:

OMIM: 300170.0008; dbSNP: rs312262895

NCBI 1000 Genomes Browser:

rs312262895

Molecular consequence:

NM_003611.2:c.2841_2847delAAAAGAC - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:

Oral-facial-digital syndrome (OFD1)

Synonyms:

OFDS I; Papillon-Leage and Psaume Syndrome; Oral-Facial-Digital Syndrome Type I

Identifiers:

MedGen: C1510460; Orphanet: 2750; OMIM: 311200

Age of onset:

Infancy

Prevalence:

Estimates range from 1:250,000 to 1:50,000.
Estimates range from 1:250,000 to 1:50,000.
1-9 / 1 000 000 Orphanet: 2750

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000057935	GeneReviews	no assertion criteria provided	pathologic (Feb 28, 2013)	not provided	curation

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000057935

GeneReviews

no assertion criteria provided

pathologic
(Feb 28, 2013)

not provided

curation

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From GeneReviews, SCV000057935.2

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

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

Last Updated: Oct 15, 2016

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