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NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter) AND Short-rib thoracic dysplasia 14 with polydactyly

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 6, 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:
RCV000190840.2

Allele description [Variation Report for NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)]

NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)

Gene:
KIAA0586:KIAA0586 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q23.1
Genomic location:
Preferred name:
NM_001329943.3(KIAA0586):c.194C>G (p.Ser65Ter)
HGVS:
  • NC_000014.9:g.58428458C>G
  • NG_051335.2:g.6074C>G
  • NM_001244189.2:c.230C>G
  • NM_001244190.2:c.149C>G
  • NM_001244191.2:c.-57+821C>G
  • NM_001244192.2:c.-57+821C>G
  • NM_001329943.3:c.194C>GMANE SELECT
  • NM_001329944.2:c.194C>G
  • NM_001329945.2:c.-57+645C>G
  • NM_001329946.2:c.194C>G
  • NM_001329947.2:c.194C>G
  • NM_001364700.1:c.-57+645C>G
  • NM_001364701.2:c.-57+645C>G
  • NM_014749.5:c.194C>G
  • NP_001231118.1:p.Ser77Ter
  • NP_001231119.1:p.Ser50Ter
  • NP_001316872.1:p.Ser65Ter
  • NP_001316873.1:p.Ser65Ter
  • NP_001316875.1:p.Ser65Ter
  • NP_001316876.1:p.Ser65Ter
  • NP_055564.3:p.Ser65Ter
  • LRG_1096t1:c.230C>G
  • LRG_1096t2:c.194C>G
  • LRG_1096t3:c.194C>G
  • LRG_1096:g.6074C>G
  • LRG_1096p1:p.Ser77Ter
  • LRG_1096p2:p.Ser65Ter
  • LRG_1096p3:p.Ser65Ter
  • NC_000014.8:g.58895176C>G
  • NM_001244189.1:c.230C>G
Protein change:
S50*; SER77TER
Links:
OMIM: 610178.0006; dbSNP: rs797045119
NCBI 1000 Genomes Browser:
rs797045119
Molecular consequence:
  • NM_001244191.2:c.-57+821C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001244192.2:c.-57+821C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001329945.2:c.-57+645C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364700.1:c.-57+645C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001364701.2:c.-57+645C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001244189.2:c.230C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001244190.2:c.149C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329943.3:c.194C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329944.2:c.194C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329946.2:c.194C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001329947.2:c.194C>G - nonsense - [Sequence Ontology: SO:0001587]
  • NM_014749.5:c.194C>G - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Short-rib thoracic dysplasia 14 with polydactyly (SRTD14)
Identifiers:
MONDO: MONDO:0014688; MedGen: C4225286; Orphanet: 397715; OMIM: 616546

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000245710OMIM
no assertion criteria provided
Pathogenic
(Aug 6, 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

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, et al.

Am J Hum Genet. 2015 Aug 6;97(2):311-8. doi: 10.1016/j.ajhg.2015.06.003. Epub 2015 Jul 9.

PubMed [citation]
PMID:
26166481
PMCID:
PMC4573270

Details of each submission

From OMIM, SCV000245710.1

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

Description

In a fetus with severe hydrocephaly, polydactyly, and skeletal abnormalities (SRTD14; 616546) from a consanguineous Lebanese family in which there were multiple early spontaneous abortions, Alby et al. (2015) identified homozygosity for a c.230C-G transversion (c.230C-G, NM_001244189.1) in exon 2 of the KIAA0536 gene, resulting in a ser77-to-ter (S77X) substitution. The mutation segregated with disease in the family and was not found in 300 Lebanese control chromosomes or in the dbSNP, Exome Variant Server, or ExAC databases. RT-PCR analysis of patient mRNA showed total absence of transcript containing KIAA0586 exon 2.

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

Last Updated: Apr 23, 2022