NM_017777.3(MKS1):c.515+1G>A AND multiple conditions

Clinical significance:Likely pathogenic (Last evaluated: Nov 30, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000671081.1

Allele description [Variation Report for NM_017777.3(MKS1):c.515+1G>A]

NM_017777.3(MKS1):c.515+1G>A

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.515+1G>A
Other names:
NM_001165927.1:c.485+1G>A
HGVS:
  • NC_000017.11:g.58214740C>T
  • NG_013032.1:g.9866G>A
  • NM_001321268.2:c.-94-353G>A
  • NM_001321269.2:c.515+1G>A
  • NM_001330397.2:c.515+1G>A
  • NM_017777.3:c.515+1G>A
  • LRG_687t1:c.515+1G>A
  • LRG_687t2:c.485+1G>A
  • LRG_687:g.9866G>A
  • NC_000017.10:g.56292101C>T
Links:
dbSNP: rs201933838
NCBI 1000 Genomes Browser:
rs201933838
Molecular consequence:
  • NM_001321268.2:c.-94-353G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001321269.2:c.515+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330397.2:c.515+1G>A - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_017777.3:c.515+1G>A - 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
SCV000796023Counsylcriteria provided, single submitter
Likely pathogenic
(Nov 30, 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

Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndrome.

Frank V, Ortiz Brüchle N, Mager S, Frints SG, Bohring A, du Bois G, Debatin I, Seidel H, Senderek J, Besbas N, Todt U, Kubisch C, Grimm T, Teksen F, Balci S, Zerres K, Bergmann C.

Hum Mutat. 2007 Jun;28(6):638-9.

PubMed [citation]
PMID:
17437276

Details of each submission

From Counsyl, SCV000796023.1

#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 6, 2021

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