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NM_012472.6(DNAAF11):c.55_56del (p.Val19fs) AND Primary ciliary dyskinesia 19

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 7, 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:
RCV003839280.2

Allele description [Variation Report for NM_012472.6(DNAAF11):c.55_56del (p.Val19fs)]

NM_012472.6(DNAAF11):c.55_56del (p.Val19fs)

Gene:
DNAAF11:dynein axonemal assembly factor 11 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
8q24.22
Genomic location:
Preferred name:
NM_012472.6(DNAAF11):c.55_56del (p.Val19fs)
HGVS:
  • NC_000008.11:g.132661583CA[1]
  • NG_033068.1:g.19033GT[1]
  • NG_033068.2:g.46328GT[1]
  • NM_001321961.2:c.55_56del
  • NM_001321962.2:c.10+13901_10+13902del
  • NM_001321963.2:c.-308GT[1]
  • NM_001321964.2:c.-308GT[1]
  • NM_001321965.2:c.-621GT[1]
  • NM_001321966.2:c.-308GT[1]
  • NM_012472.6:c.55_56delMANE SELECT
  • NP_001308890.1:p.Val19fs
  • NP_036604.2:p.Val19fs
  • NC_000008.10:g.133673828_133673829del
  • NC_000008.10:g.133673829CA[1]
  • NR_073525.3:n.105GT[1]
  • NR_135905.2:n.105GT[1]
  • NR_135907.2:n.105GT[1]
  • NR_135909.2:n.315GT[1]
  • NR_135910.2:n.665GT[1]
  • NR_135912.2:n.1031GT[1]
  • NR_135913.2:n.1031GT[1]
Protein change:
V19fs
Molecular consequence:
  • NM_001321963.2:c.-308GT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001321964.2:c.-308GT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001321965.2:c.-621GT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001321966.2:c.-308GT[1] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001321961.2:c.55_56del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012472.6:c.55_56del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321962.2:c.10+13901_10+13902del - intron variant - [Sequence Ontology: SO:0001627]
  • NR_073525.3:n.105GT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135905.2:n.105GT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135907.2:n.105GT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135909.2:n.315GT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135910.2:n.665GT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135912.2:n.1031GT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_135913.2:n.1031GT[1] - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Primary ciliary dyskinesia 19
Synonyms:
CILIARY DYSKINESIA, PRIMARY, 19, WITH OR WITHOUT SITUS INVERSUS
Identifiers:
MONDO: MONDO:0013979; MedGen: C3543826; Orphanet: 244; OMIM: 614935

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004638050Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Pathogenic
(Aug 7, 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

Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.

Kott E, Duquesnoy P, Copin B, Legendre M, Dastot-Le Moal F, Montantin G, Jeanson L, Tamalet A, Papon JF, Siffroi JP, Rives N, Mitchell V, de Blic J, Coste A, Clement A, Escalier D, Touré A, Escudier E, Amselem S.

Am J Hum Genet. 2012 Nov 2;91(5):958-64. doi: 10.1016/j.ajhg.2012.10.003.

PubMed [citation]
PMID:
23122589
PMCID:
PMC3487148

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, SCV004638050.1

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

Description

For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with LRRC6-related conditions. This variant is present in population databases (rs756029160, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Val19Hisfs*21) in the LRRC6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LRRC6 are known to be pathogenic (PMID: 23122589).

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

Last Updated: Sep 29, 2024