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NM_178452.6(DNAAF1):c.143A>G (p.Glu48Gly) AND Primary ciliary dyskinesia

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 24, 2022
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:
RCV002394329.3

Allele description [Variation Report for NM_178452.6(DNAAF1):c.143A>G (p.Glu48Gly)]

NM_178452.6(DNAAF1):c.143A>G (p.Glu48Gly)

Gene:
DNAAF1:dynein axonemal assembly factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.1
Genomic location:
Preferred name:
NM_178452.6(DNAAF1):c.143A>G (p.Glu48Gly)
HGVS:
  • NC_000016.10:g.84149025A>G
  • NG_021174.2:g.8719A>G
  • NM_178452.6:c.143A>GMANE SELECT
  • NP_848547.4:p.Glu48Gly
  • NC_000016.9:g.84182630A>G
  • NG_021174.1:g.8766A>G
  • NM_178452.4:c.143A>G
Protein change:
E48G
Molecular consequence:
  • NM_178452.6:c.143A>G - 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
SCV002699333Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)		Uncertain significance
(May 24, 2022) 		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, SCV002699333.2

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

Description

The p.E48G variant (also known as c.143A>G), located in coding exon 2 of the DNAAF1 gene, results from an A to G substitution at nucleotide position 143. The glutamic acid at codon 48 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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

Last Updated: Sep 16, 2024