NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) AND Orofaciodigital syndrome I

Clinical significance:Uncertain significance (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000033956.4

Allele description [Variation Report for NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln)]

NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln)

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.1100G>A (p.Arg367Gln)
HGVS:
  • NC_000023.11:g.13753412G>A
  • NG_008872.1:g.23700G>A
  • NM_001330209.2:c.980G>A
  • NM_001330210.2:c.680G>A
  • NM_003611.3:c.1100G>AMANE SELECT
  • NP_001317138.1:p.Arg327Gln
  • NP_001317139.1:p.Arg227Gln
  • NP_003602.1:p.Arg367Gln
  • NC_000023.10:g.13771531G>A
  • NM_003611.2:c.1100G>A
Protein change:
R227Q
Links:
dbSNP: rs312262864
NCBI 1000 Genomes Browser:
rs312262864
Molecular consequence:
  • NM_001330209.2:c.980G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330210.2:c.680G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003611.3:c.1100G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Orofaciodigital syndrome I (OFD1)
Synonyms:
OFDS I; Orofaciodigital syndrome 1; OFD syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010702; MedGen: C1510460; Orphanet: 2750; OMIM: 311200

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000057886GeneReviewsno assertion criteria providedpathologic
(Feb 28, 2013)
not providedcuration

SCV001141471Mendelicscriteria provided, single submitter
Uncertain significance
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot providednot providednot providedcuration
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneReviews, SCV000057886.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

From Mendelics, SCV001141471.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2021

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