NM_012472.6(DNAAF11):c.576dup (p.Glu193fs) AND Ciliary dyskinesia, primary, 19

Clinical significance:Pathogenic (Last evaluated: Nov 2, 2012)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000033018.4

Allele description [Variation Report for NM_012472.6(DNAAF11):c.576dup (p.Glu193fs)]

NM_012472.6(DNAAF11):c.576dup (p.Glu193fs)

Gene:
DNAAF11:dynein axonemal assembly factor 11 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
8q24.22
Genomic location:
Preferred name:
NM_012472.6(DNAAF11):c.576dup (p.Glu193fs)
HGVS:
  • NC_000008.11:g.132632818dup
  • NG_033068.1:g.47801dup
  • NM_001321961.2:c.576dup
  • NM_001321962.2:c.330dup
  • NM_001321963.2:c.216dup
  • NM_001321964.2:c.216dup
  • NM_001321965.2:c.216dup
  • NM_001321966.2:c.216dup
  • NM_012472.6:c.576dupMANE SELECT
  • NP_001308890.1:p.Glu193fs
  • NP_001308891.1:p.Glu111fs
  • NP_001308892.1:p.Glu73fs
  • NP_001308893.1:p.Glu73fs
  • NP_001308894.1:p.Glu73fs
  • NP_001308895.1:p.Glu73fs
  • NP_036604.2:p.Glu193fs
  • NC_000008.10:g.133645064dup
  • NM_012472.3:c.576dupA
  • NR_073525.3:n.628dup
Protein change:
E111fs
Links:
OMIM: 614930.0003; dbSNP: rs397515425
NCBI 1000 Genomes Browser:
rs397515425
Molecular consequence:
  • NM_001321961.2:c.576dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321962.2:c.330dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321963.2:c.216dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321964.2:c.216dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321965.2:c.216dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321966.2:c.216dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_012472.6:c.576dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NR_073525.3:n.628dup - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Ciliary dyskinesia, primary, 19 (CILD19)
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

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000056798OMIMno assertion criteria providedPathogenic
(Nov 2, 2012)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000086957GeneReviewsno assertion criteria providedpathologic
(Sep 15, 2011)
not providedcuration

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providednot providednot providednot providednot providednot providednot providednot providedcuration

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

Details of each submission

From OMIM, SCV000056798.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

For discussion of the 1-bp duplication in the LRRC6 gene (576dupA) that was found in compound heterozygous state in a patient with primary ciliary dyskinesia-19 (CILD19; 614935) by Kott et al. (2012), see 614930.0002.

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

From GeneReviews, SCV000086957.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcurationnot provided

Description

Converted during submission to Pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Feb 6, 2021

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