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NM_017777.4(MKS1):c.1491-2A>G AND Joubert syndrome 28

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 23, 2016
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:
RCV000241543.1

Allele description [Variation Report for NM_017777.4(MKS1):c.1491-2A>G]

NM_017777.4(MKS1):c.1491-2A>G

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.4(MKS1):c.1491-2A>G
HGVS:
  • NC_000017.11:g.58206382T>C
  • NG_013020.1:g.18655T>C
  • NG_013032.1:g.18224A>G
  • NM_001321268.2:c.882-2A>G
  • NM_001321269.2:c.1408-2A>G
  • NM_001330397.2:c.1274-2A>G
  • NM_017777.4:c.1491-2A>GMANE SELECT
  • LRG_687:g.18224A>G
  • NC_000017.10:g.56283743T>C
Nucleotide change:
IVS16AS, A-G, -2
Links:
OMIM: 609883.0010; dbSNP: rs886038203
NCBI 1000 Genomes Browser:
rs886038203
Molecular consequence:
  • NM_001321268.2:c.882-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001321269.2:c.1408-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_001330397.2:c.1274-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]
  • NM_017777.4:c.1491-2A>G - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Joubert syndrome 28 (JBTS28)
Identifiers:
MONDO: MONDO:0014928; MedGen: C4310705; OMIM: 617121

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000301465OMIM
no assertion criteria provided
Pathogenic
(Sep 23, 2016) 		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 B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM.

Orphanet J Rare Dis. 2014 May 5;9:72. doi: 10.1186/1750-1172-9-72.

PubMed [citation]
PMID:
24886560
PMCID:
PMC4113192

Details of each submission

From OMIM, SCV000301465.1

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

Description

In a 44-year-old man (COR340) with Joubert syndrome-28 (JBTS28; 617121), Romani et al. (2014) identified a homozygous A-to-G transition in intron 16 of the MKS1 gene (c.1461-2A-G, NG_013032.1), predicted to result in a splice site alteration. Each unaffected parent was heterozygous for the mutation, which was not found in public databases. Functional studies of the variant and studies of patient cells were not performed.

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

Last Updated: Feb 1, 2025