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NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs) AND Joubert syndrome 28

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Dec 5, 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:
RCV000984283.1

Allele description [Variation Report for NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)]

NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.4(MKS1):c.1450_1453dup (p.Thr485fs)
HGVS:
  • NC_000017.11:g.58206504_58206507dup
  • NG_013020.1:g.18777_18780dup
  • NG_013032.1:g.18101_18104dup
  • NM_001321268.2:c.841_844dup
  • NM_001321269.2:c.1408-125_1408-122dup
  • NM_001330397.2:c.1274-125_1274-122dup
  • NM_017777.4:c.1450_1453dupMANE SELECT
  • NP_001308197.1:p.Thr282fs
  • NP_060247.2:p.Thr485fs
  • NP_060247.2:p.Thr485fs
  • LRG_687t1:c.1450_1453dup
  • LRG_687:g.18101_18104dup
  • LRG_687p1:p.Thr485fs
  • NC_000017.10:g.56283862_56283863insTGCC
  • NC_000017.10:g.56283865_56283868dup
  • NM_017777.3:c.1450_1453dup
  • NM_017777.3:c.1450_1453dupGGCA
  • NM_017777.4:c.1450_1453dup
Protein change:
T282fs
Links:
dbSNP: rs386834044
NCBI 1000 Genomes Browser:
rs386834044
Molecular consequence:
  • NM_001321268.2:c.841_844dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_017777.4:c.1450_1453dup - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001321269.2:c.1408-125_1408-122dup - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330397.2:c.1274-125_1274-122dup - intron variant - [Sequence Ontology: SO:0001627]

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
SCV001132433Counsyl
no assertion criteria provided
Likely pathogenic
(Dec 5, 2016) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online.

Khaddour R, Smith U, Baala L, Martinovic J, Clavering D, Shaffiq R, Ozilou C, Cullinane A, Kyttälä M, Shalev S, Audollent S, d'Humières C, Kadhom N, Esculpavit C, Viot G, Boone C, Oien C, Encha-Razavi F, Batman PA, Bennett CP, Woods CG, Roume J, et al.

Hum Mutat. 2007 May;28(5):523-4.

PubMed [citation]
PMID:
17397051

Details of each submission

From Counsyl, SCV001132433.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024