NM_001277115.2(DNAH11):c.2974del (p.Thr992fs) AND Primary ciliary dyskinesia

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 30, 2019
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:: RCV001051076.7

Allele description [Variation Report for NM_001277115.2(DNAH11):c.2974del (p.Thr992fs)]

NM_001277115.2(DNAH11):c.2974del (p.Thr992fs)

Genes:

LOC126859961:BRD4-independent group 4 enhancer GRCh37_chr7:21639662-21640861 [Gene]
DNAH11:dynein axonemal heavy chain 11 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

7p15.3

Genomic location:

Preferred name:

NM_001277115.2(DNAH11):c.2974del (p.Thr992fs)

HGVS:

NC_000007.14:g.21600093del
NG_012886.2:g.61879del
NM_001277115.2:c.2974delMANE SELECT
NP_001264044.1:p.Thr992fs
NC_000007.13:g.21639710del
NC_000007.13:g.21639711del
NM_001277115.1:c.2974del

Protein change:

T992fs

Links:

dbSNP: rs756850884

NCBI 1000 Genomes Browser:

rs756850884

Molecular consequence:

NM_001277115.2:c.2974del - frameshift variant - [Sequence Ontology: SO:0001589]

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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RecName: Full=Palmitoyltransferase ZDHHC18; AltName: Full=DHHC domain-containing...
RecName: Full=Palmitoyltransferase ZDHHC18; AltName: Full=DHHC domain-containing cysteine-rich protein 18; Short=DHHC-18; AltName: Full=Zinc finger DHHC domain-containing protein 18
gi|190358931|sp|Q5Y5T2.4|ZDH18_MOUS

Protein
Annotated Genomic for Nucleotide (Select 2049844525) (9)
Nucleotide

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001215209	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Pathogenic (Apr 30, 2019)	germline	clinical testing	PubMed (4) [See all records that cite these PMIDs] 18022865, 20513915, 22184204, 28492532

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001215209

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Pathogenic
(Apr 30, 2019)

germline

clinical testing

PubMed (4)
[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

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 Labcorp Genetics (formerly Invitae), Labcorp, SCV001215209.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (4)

Description

For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in DNAH11 are known to be pathogenic (PMID: 18022865, 20513915, 22184204). This variant has not been reported in the literature in individuals with DNAH11-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change creates a premature translational stop signal (p.Thr992Hisfs*16) in the DNAH11 gene. It is expected to result in an absent or disrupted protein product.

#	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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