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NC_000007.13:g.(?_20994491)_(23030730_?)del AND Primary ciliary dyskinesia

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 27, 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:
RCV003107317.3

Allele description

NC_000007.13:g.(?_20994491)_(23030730_?)del

Genes:
  • IL6-AS1:IL6 antisense RNA 1 [Gene - HGNC]
  • RAPGEF5:Rap guanine nucleotide exchange factor 5 [Gene - OMIM - HGNC]
  • STEAP1B:STEAP family member 1B [Gene - HGNC]
  • SP4:Sp4 transcription factor [Gene - OMIM - HGNC]
  • CDCA7L:cell division cycle associated 7 like [Gene - OMIM - HGNC]
  • DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]
  • HYCC1:hyccin PI4KA lipid kinase complex subunit 1 [Gene - OMIM - HGNC]
  • IL6:interleukin 6 [Gene - OMIM - HGNC]
  • TOMM7:translocase of outer mitochondrial membrane 7 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
7p15.3
Genomic location:
Chr7: 20994491 - 23030730 (on Assembly GRCh37)
Preferred name:
NC_000007.13:g.(?_20994491)_(23030730_?)del
HGVS:
NC_000007.13:g.(?_20994491)_(23030730_?)del

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

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003793495Invitae
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Jun 27, 2022) 		germlineclinical testing

PubMed (4)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Primary ciliary dyskinesia associated with normal axoneme ultrastructure is caused by DNAH11 mutations.

Schwabe GC, Hoffmann K, Loges NT, Birker D, Rossier C, de Santi MM, Olbrich H, Fliegauf M, Failly M, Liebers U, Collura M, Gaedicke G, Mundlos S, Wahn U, Blouin JL, Niggemann B, Omran H, Antonarakis SE, Bartoloni L.

Hum Mutat. 2008 Feb;29(2):289-98.

PubMed [citation]
PMID:
18022865

New DNAH11 mutations in primary ciliary dyskinesia with normal axonemal ultrastructure.

Pifferi M, Michelucci A, Conidi ME, Cangiotti AM, Simi P, Macchia P, Boner AL.

Eur Respir J. 2010 Jun;35(6):1413-6. doi: 10.1183/09031936.00186209. No abstract available.

PubMed [citation]
PMID:
20513915
See all PubMed Citations (4)

Details of each submission

From Invitae, SCV003793495.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (4)

Description

A gross deletion of the genomic region encompassing the full coding sequence of the DNAH11 gene has been identified. Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). The boundaries of this event are unknown as they extend beyond the assayed region for this gene and therefore may encompass additional genes. This variant has not been reported in the literature in individuals affected with DNAH11-related conditions. For these reasons, this variant has been classified as Pathogenic.

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

Last Updated: Oct 14, 2023