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NM_001286209.1(GAS8):c.852C>A (p.Cys284Ter) AND Ciliary dyskinesia, primary, 33

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 2015
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
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:
RCV000203519.1

Allele description

NM_001286209.1(GAS8):c.852C>A (p.Cys284Ter)

Gene:
GAS8:growth arrest specific 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16q24.3
Genomic location:
Preferred name:
NM_001286209.1(GAS8):c.852C>A (p.Cys284Ter)
HGVS:
  • NC_000016.10:g.90037764C>A
  • NG_046598.1:g.23136C>A
  • NM_001286209.1:c.852C>A
  • NM_001481.2:c.927C>A
  • NP_001273138.1:p.Cys284Ter
  • NP_001472.1:p.Cys309Ter
  • NC_000016.9:g.90104172C>A
Protein change:
C284*; CYS309TER
Links:
OMIM: 605178.0001; dbSNP: rs748688175
NCBI 1000 Genomes Browser:
rs748688175
Molecular consequence:
  • NM_001286209.1:c.852C>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Ciliary dyskinesia, primary, 33 (CILD33)
Synonyms:
CILIARY DYSKINESIA, PRIMARY, 33, WITHOUT SITUS INVERSUS
Identifiers:
MedGen: C4225230; Orphanet: 244; OMIM: 616726
Age of onset:
Neonatal
Prevalence:
1-5 / 10 000 244

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000258605OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 2015) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Loss-of-Function GAS8 Mutations Cause Primary Ciliary Dyskinesia and Disrupt the Nexin-Dynein Regulatory Complex.

Olbrich H, Cremers C, Loges NT, Werner C, Nielsen KG, Marthin JK, Philipsen M, Wallmeier J, Pennekamp P, Menchen T, Edelbusch C, Dougherty GW, Schwartz O, Thiele H, Altmüller J, Rommelmann F, Omran H.

Am J Hum Genet. 2015 Oct 1;97(4):546-54. doi: 10.1016/j.ajhg.2015.08.012. Epub 2015 Sep 17.

PubMed [citation]
PMID:
26387594
PMCID:
PMC4596893

Details of each submission

From OMIM, SCV000258605.1

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

Description

In a 27-year-old Dutch man (OP-929) with primary ciliary dyskinesia-33 (CILD33; 616726), Olbrich et al. (2015) identified a homozygous c.927C-A transversion (c.927C-A, NM_001481.2) in exon 8 of the GAS8 gene, resulting in a cys309-to-ter (C309X) substitution. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the 1000 Genomes Project or ExAC databases; parental DNA was not available for segregation analysis. No GAS8 protein was detected in patient cells, consistent with a loss of function.

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

Last Updated: Jul 15, 2017