NM_031421.5(ODAD4):c.245del (p.Lys82fs) AND Primary ciliary dyskinesia 35

Germline classification:: Pathogenic (1 submission)
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:: RCV001078458.3

Allele description [Variation Report for NM_031421.5(ODAD4):c.245del (p.Lys82fs)]

NM_031421.5(ODAD4):c.245del (p.Lys82fs)

Gene:

ODAD4:outer dynein arm docking complex subunit 4 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

17q21.2

Genomic location:

Preferred name:

NM_031421.5(ODAD4):c.245del (p.Lys82fs)

HGVS:

NC_000017.11:g.41935347del
NG_047031.1:g.197del
NG_053115.1:g.9754del
NM_001350319.2:c.245del
NM_031421.5:c.245delMANE SELECT
NP_001337248.1:p.Lys82fs
NP_113609.1:p.Lys82fs
NC_000017.10:g.40091600del
NM_031421.4:c.245delA
NR_110662.3:n.352del
NR_146621.2:n.352del
NR_146622.2:n.352del

Protein change:

K82fs

Links:

dbSNP: rs781949585

NCBI 1000 Genomes Browser:

rs781949585

Molecular consequence:

NM_001350319.2:c.245del - frameshift variant - [Sequence Ontology: SO:0001589]
NM_031421.5:c.245del - frameshift variant - [Sequence Ontology: SO:0001589]
NR_110662.3:n.352del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146621.2:n.352del - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_146622.2:n.352del - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

Condition(s)

Name:: Primary ciliary dyskinesia 35
Synonyms:: CILIARY DYSKINESIA, PRIMARY, 35, WITH OR WITHOUT SITUS INVERSUS
Identifiers:: MONDO: MONDO:0014910; MedGen: C4310721; Orphanet: 244; OMIM: 617092

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001244703	Biology Pathology Center, Lille University Hospital	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001244703

Biology Pathology Center, Lille University Hospital

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	1	1	not provided	1	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Biology Pathology Center, Lille University Hospital, SCV001244703.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	1	not provided	not provided		1	not provided	1	not provided

Last Updated: Apr 23, 2022

ClinVar

Relating variation to medicine