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NM_003611.3(OFD1):c.313-3A>G AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 10, 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:
RCV000482191.1

Allele description [Variation Report for NM_003611.3(OFD1):c.313-3A>G]

NM_003611.3(OFD1):c.313-3A>G

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.313-3A>G
HGVS:
  • NC_000023.11:g.13738843A>G
  • NG_008872.1:g.9131A>G
  • NG_011555.1:g.781T>C
  • NM_001330209.2:c.313-3A>G
  • NM_001330210.2:c.-233-3A>G
  • NM_003611.3:c.313-3A>GMANE SELECT
  • NC_000023.10:g.13756962A>G
  • NM_003611.2:c.313-3A>G
Links:
dbSNP: rs1064796910
NCBI 1000 Genomes Browser:
rs1064796910
Molecular consequence:
  • NM_001330209.2:c.313-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330210.2:c.-233-3A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003611.3:c.313-3A>G - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000574118GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Mar 10, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000574118.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.313-3A>G variant in the OFD1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. In silico analyses predict this variant destroys the natural splice acceptor site in intron 3, resulting in abnormal gene splicing. However, this variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, in the absence of RNA/functional studies, the actual effect of this sequence change in this individual is unknown. We interpret c.313-3A>G as a variant of uncertain significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022