NM_178452.5(DNAAF1):c.-141G>A AND Primary ciliary dyskinesia

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jun 14, 2016
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:: RCV000323435.14

Allele description [Variation Report for NM_178452.5(DNAAF1):c.-141G>A]

NM_178452.5(DNAAF1):c.-141G>A

Genes:

DNAAF1:dynein axonemal assembly factor 1 [Gene - OMIM - HGNC]
LOC130059566:ATAC-STARR-seq lymphoblastoid silent region 7780 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

16q24.1

Genomic location:

Preferred name:

NM_178452.5(DNAAF1):c.-141G>A

HGVS:

NC_000016.10:g.84145300G>A
NG_021174.1:g.5041G>A
NG_021174.2:g.4994G>A
NG_193987.1:g.489G>A
NM_178452.5:c.-141G>A
NC_000016.9:g.84178905G>A
NM_178452.4:c.-141G>A

Links:

dbSNP: rs886052363

NCBI 1000 Genomes Browser:

rs886052363

Condition(s)

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

Recent activity

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PREDICTED: Nomascus leucogenys kinesin-like protein KIF1C (LOC105738625), mRNA
PREDICTED: Nomascus leucogenys kinesin-like protein KIF1C (LOC105738625), mRNA
gi|1743136004|ref|XM_030807958.1|

Nucleotide
MHC class I antigen [Homo sapiens]
MHC class I antigen [Homo sapiens]
gi|543905924|gb|AGV77008.1|

Protein
RecName: Full=Acetophenone carboxylase beta subunit; AltName: Full=Acetophenone ...
RecName: Full=Acetophenone carboxylase beta subunit; AltName: Full=Acetophenone carboxylase 15 kDa subunit
gi|81357897|sp|Q5P5G3.1|APCB_AROAE

Protein
LOC127270332 [Homo sapiens]
LOC127270332 [Homo sapiens]
Gene ID:127270332

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000399134	Illumina Laboratory Services, Illumina	criteria provided, single submitter (ICSL Variant Classification 20161018)	Uncertain significance (Jun 14, 2016)	germline	clinical testing	ICSL_Variant_Classification_20161018.pdf Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000399134

Illumina Laboratory Services, Illumina

criteria provided, single submitter

(ICSL Variant Classification 20161018)

Uncertain significance
(Jun 14, 2016)

germline

clinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Illumina Laboratory Services, Illumina, SCV000399134.2

#	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	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Nov 10, 2024

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