NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs) AND Orofaciodigital syndrome I

Germline classification:: Likely pathogenic (1 submission)
Last evaluated:: Jul 12, 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:: RCV000680173.3

Allele description [Variation Report for NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs)]

NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xp22.2

Genomic location:

Preferred name:

NM_003611.3(OFD1):c.1603_1604del (p.Leu535fs)

HGVS:

NC_000023.11:g.13758397_13758398del
NG_008872.1:g.28685_28686del
NM_001330209.2:c.1483_1484del
NM_001330210.2:c.1183_1184del
NM_003611.3:c.1603_1604delMANE SELECT
NP_001317138.1:p.Leu495fs
NP_001317139.1:p.Leu395fs
NP_003602.1:p.Leu535fs
NC_000023.10:g.13776516_13776517del
NM_003611.2:c.1603_1604delTT

Protein change:

L395fs

Links:

dbSNP: rs1569145145

NCBI 1000 Genomes Browser:

rs1569145145

Molecular consequence:

NM_001330209.2:c.1483_1484del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001330210.2:c.1183_1184del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_003611.3:c.1603_1604del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Orofaciodigital syndrome I (OFD1)
Synonyms:: OFDS I; Papillon-Leage and Psaume Syndrome; Oral-Facial-Digital Syndrome Type I
Identifiers:: MONDO: MONDO:0010702; MedGen: C1510460; Orphanet: 2750; OMIM: 311200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000804843	Institute of Human Genetics, University of Goettingen	no assertion criteria provided	Likely pathogenic (Jul 12, 2018)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000804843

Institute of Human Genetics, University of Goettingen

no assertion criteria provided

Likely pathogenic
(Jul 12, 2018)

germline

clinical testing

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 Institute of Human Genetics, University of Goettingen, SCV000804843.2

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

#	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: May 16, 2025

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