NM_145045.5(ODAD3):c.1213_1215del (p.Glu405del) AND Primary ciliary dyskinesia 30

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 26, 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:: RCV001343840.6

Allele description [Variation Report for NM_145045.5(ODAD3):c.1213_1215del (p.Glu405del)]

NM_145045.5(ODAD3):c.1213_1215del (p.Glu405del)

Gene:

ODAD3:outer dynein arm docking complex subunit 3 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

19p13.2

Genomic location:

Preferred name:

NM_145045.5(ODAD3):c.1213_1215del (p.Glu405del)

HGVS:

NC_000019.10:g.11422765_11422767del
NG_041777.1:g.18018_18020del
NM_001302453.1:c.1051_1053del
NM_001302454.2:c.1033_1035del
NM_145045.5:c.1213_1215delMANE SELECT
NP_001289382.1:p.Glu351del
NP_001289383.1:p.Glu345del
NP_659482.3:p.Glu405del
NC_000019.9:g.11533431_11533433del
NC_000019.9:g.11533433_11533435del

Protein change:

E345del

Links:

dbSNP: rs765121016

NCBI 1000 Genomes Browser:

rs765121016

Molecular consequence:

NM_001302453.1:c.1051_1053del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001302454.2:c.1033_1035del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_145045.5:c.1213_1215del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Primary ciliary dyskinesia 30
Synonyms:: CILIARY DYSKINESIA, PRIMARY, 30, WITH OR WITHOUT SITUS INVERSUS
Identifiers:: MONDO: MONDO:0014465; MedGen: C4015016; Orphanet: 244; OMIM: 616037

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Homo sapiens zinc finger protein 474, mRNA (cDNA clone MGC:164657 IMAGE:40147048...
Homo sapiens zinc finger protein 474, mRNA (cDNA clone MGC:164657 IMAGE:40147048), complete cds
gi|124376247|gb|BC133026.1|

Nucleotide
Homo sapiens zinc finger protein 474, mRNA (cDNA clone MGC:164653 IMAGE:40147044...
Homo sapiens zinc finger protein 474, mRNA (cDNA clone MGC:164653 IMAGE:40147044), complete cds
gi|124375995|gb|BC133022.1|

Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001537855	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jan 26, 2022)	germline	clinical testing	PubMed (2) [See all records that cite these PMIDs] 32111882, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001537855

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jan 26, 2022)

germline

clinical testing

PubMed (2)
[See all records that cite these PMIDs]

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

Citations

PubMed

The genetics of situs inversus without primary ciliary dyskinesia.

Postema MC, Carrion-Castillo A, Fisher SE, Vingerhoets G, Francks C.

Sci Rep. 2020 Feb 28;10(1):3677. doi: 10.1038/s41598-020-60589-z.

PubMed [citation]

PMID:: 32111882
PMCID:: PMC7048929

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001537855.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (2)

Description

This variant, c.1213_1215del, results in the deletion of 1 amino acid(s) of the CCDC151 protein (p.Glu405del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs765121016, gnomAD 0.01%). This variant has been observed in individual(s) with CCDC151-related conditions (PMID: 32111882). ClinVar contains an entry for this variant (Variation ID: 1040236). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

#	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: Sep 29, 2024

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