NM_017777.3(MKS1):c.80+2T>C AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Feb 24, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000665702.1

Allele description [Variation Report for NM_017777.3(MKS1):c.80+2T>C]

NM_017777.3(MKS1):c.80+2T>C

Gene:
MKS1:MKS transition zone complex subunit 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q22
Genomic location:
Preferred name:
NM_017777.3(MKS1):c.80+2T>C
HGVS:
  • NC_000017.11:g.58219149A>G
  • NG_013032.1:g.5457T>C
  • NM_001321268.2:c.-432+2T>C
  • NM_001321269.2:c.80+2T>C
  • NM_001330397.2:c.80+2T>C
  • NM_017777.3:c.80+2T>C
  • LRG_687t1:c.80+2T>C
  • LRG_687t2:c.50+313T>C
  • LRG_687:g.5457T>C
  • NC_000017.10:g.56296510A>G
Note:
NCBI staff reviewed the sequence information reported in PubMed 16415886 Supplementary Fig. 2f to determine the location of this allele on the current reference sequence.
Nucleotide change:
IVS1DS, T-C, +2
Links:
OMIM: 609883.0003; dbSNP: rs386834052
NCBI 1000 Genomes Browser:
rs386834052
Molecular consequence:
  • NM_001321268.2:c.-432+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001321269.2:c.80+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330397.2:c.80+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_017777.3:c.80+2T>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV000789865Counsylcriteria provided, single submitter
Likely pathogenic
(Feb 24, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.

Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, Peltonen L, Kestilä M.

Nat Genet. 2006 Feb;38(2):155-7. Epub 2006 Jan 15.

PubMed [citation]
PMID:
16415886

Details of each submission

From Counsyl, SCV000789865.1

#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: Aug 11, 2021

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