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NM_001277115.2(DNAH11):c.13421_13453del (p.Gln4474_Lys4484del) AND Primary ciliary dyskinesia

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Nov 28, 2023
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:
RCV001216307.9

Allele description [Variation Report for NM_001277115.2(DNAH11):c.13421_13453del (p.Gln4474_Lys4484del)]

NM_001277115.2(DNAH11):c.13421_13453del (p.Gln4474_Lys4484del)

Genes:
CDCA7L:cell division cycle associated 7 like [Gene - OMIM - HGNC]
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.13421_13453del (p.Gln4474_Lys4484del)
HGVS:
  • NC_000007.14:g.21901124_21901156del
  • NG_012886.2:g.362910_362942del
  • NM_001127370.3:c.*1174_*1206del
  • NM_001127371.3:c.*1174_*1206del
  • NM_001277115.2:c.13421_13453delMANE SELECT
  • NM_018719.5:c.*1174_*1206delMANE SELECT
  • NP_001264044.1:p.Gln4474_Lys4484del
  • NC_000007.13:g.21940734_21940766del
  • NC_000007.13:g.21940742_21940774del
  • NM_001277115.1:c.13421_13453del
Links:
dbSNP: rs771508476
NCBI 1000 Genomes Browser:
rs771508476
Molecular consequence:
  • NM_001127370.3:c.*1174_*1206del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001127371.3:c.*1174_*1206del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_018719.5:c.*1174_*1206del - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
  • NM_001277115.2:c.13421_13453del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV001388097Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Likely pathogenic
(Nov 28, 2023) 		germlineclinical testing

PubMed (2)
[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

Deep phenotyping, including quantitative ciliary beating parameters, and extensive genotyping in primary ciliary dyskinesia.

Blanchon S, Legendre M, Bottier M, Tamalet A, Montantin G, Collot N, Faucon C, Dastot F, Copin B, Clement A, Filoche M, Coste A, Amselem S, Escudier E, Papon JF, Louis B.

J Med Genet. 2020 Apr;57(4):237-244. doi: 10.1136/jmedgenet-2019-106424. Epub 2019 Nov 26.

PubMed [citation]
PMID:
31772028

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, SCV001388097.5

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (2)

Description

This variant, c.13421_13453del, results in the deletion of 11 amino acid(s) of the DNAH11 protein (p.Gln4474_Lys4484del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs771508476, gnomAD 0.01%). This variant has been observed in individual(s) with clinical features of primary ciliary dyskinesia (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 945626). This variant disrupts a region of the DNAH11 protein in which other variant(s) (p.Pro4479Thr) have been observed in individuals with DNAH11-related conditions (PMID: 31772028). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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

Last Updated: Sep 29, 2024