NM_017777.4(MKS1):c.1115_1117del (p.Ser372del) AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Feb 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000665372.1

Allele description [Variation Report for NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)]

NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.4(MKS1):c.1115_1117del (p.Ser372del)
HGVS:
  • NC_000017.11:g.58208155_58208157del
  • NG_013032.1:g.16451_16453del
  • NM_001321268.2:c.506_508del
  • NM_001321269.2:c.1115_1117del
  • NM_001330397.2:c.1115_1117del
  • NM_017777.4:c.1115_1117delMANE SELECT
  • NP_001308197.1:p.Ser169del
  • NP_001308198.1:p.Ser372del
  • NP_001317326.1:p.Ser372del
  • NP_060247.2:p.Ser372del
  • LRG_687:g.16451_16453del
  • NC_000017.10:g.56285516_56285518del
  • NM_017777.3:c.1115_1117delCCT
Protein change:
S169del
Links:
OMIM: 609883.0011; dbSNP: rs754279998
NCBI 1000 Genomes Browser:
rs754279998
Molecular consequence:
  • NM_001321268.2:c.506_508del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001321269.2:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001330397.2:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_017777.4:c.1115_1117del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:
Bardet-Biedl syndrome 13 (BBS13)
Identifiers:
MONDO: MONDO:0014441; MedGen: C2673873; Orphanet: 110; OMIM: 615990
Name:
Meckel syndrome type 1 (MKS1)
Synonyms:
MECKEL-GRUBER SYNDROME, TYPE 1
Identifiers:
MONDO: MONDO:0009571; MedGen: C3714506; Orphanet: 564; OMIM: 249000
Name:
Joubert syndrome 28 (JBTS28)
Identifiers:
MONDO: MONDO:0014928; MedGen: C4310705; OMIM: 617121

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000789485Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 3, 2017)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Citation Link

Summary from all submissions

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

Citations

PubMed

MKS1 regulates ciliary INPP5E levels in Joubert syndrome.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran KJ, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, et al.

J Med Genet. 2016 Jan;53(1):62-72. doi: 10.1136/jmedgenet-2015-103250. Epub 2015 Oct 21.

PubMed [citation]
PMID:
26490104
PMCID:
PMC5060087

Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.

Irfanullah., Khan S, Ullah I, Nasir A, Meijer CA, Laurense-Bik M, den Dunnen JT, Ruivenkamp CA, Hoffer MJ, Santen GW, Ahmad W.

Am J Med Genet A. 2016 Dec;170(12):3289-3293. doi: 10.1002/ajmg.a.37934. Epub 2016 Aug 29.

PubMed [citation]
PMID:
27570071
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV000789485.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 6, 2021

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