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NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr) AND Primary ciliary dyskinesia

Germline classification:
Benign (1 submission)
Last evaluated:
Jan 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:
RCV004019775.1

Allele description [Variation Report for NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)]

NM_003611.3(OFD1):c.2663A>C (p.Lys888Thr)

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.2663A>C (p.Lys888Thr)
HGVS:
  • NC_000023.11:g.13767190A>C
  • NG_008872.1:g.37478A>C
  • NM_001330209.2:c.2543A>C
  • NM_001330210.2:c.2243A>C
  • NM_003611.3:c.2663A>CMANE SELECT
  • NP_001317138.1:p.Lys848Thr
  • NP_001317139.1:p.Lys748Thr
  • NP_003602.1:p.Lys888Thr
  • NC_000023.10:g.13785309A>C
  • NM_003611.2:c.2663A>C
Protein change:
K748T
Links:
dbSNP: rs149647255
NCBI 1000 Genomes Browser:
rs149647255
Molecular consequence:
  • NM_001330209.2:c.2543A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330210.2:c.2243A>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_003611.3:c.2663A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Primary ciliary dyskinesia
Synonyms:
Ciliary dyskinesia
Identifiers:
MONDO: MONDO:0016575; MedGen: C0008780; OMIM: PS244400; Human Phenotype Ontology: HP:0012265

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000849909Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Benign
(Jan 10, 2017) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From Ambry Genetics, SCV000849909.5

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

Description

This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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

Last Updated: Nov 10, 2024