NM_017777.3(MKS1):c.515+1G>A AND Meckel syndrome type 1

Clinical significance:Pathogenic (Last evaluated: Dec 3, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
2 submissions [Details]
Record status:
current
Accession:
RCV000050037.4

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:
Meckel syndrome type 1 (MKS1)
Synonyms:
MECKEL-GRUBER SYNDROME, TYPE 1
Identifiers:
MONDO: MONDO:0009571; MedGen: C3714506; Orphanet: 564; OMIM: 249000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000082446Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)no assertion criteria providedprobable-pathogenicnot providednot provided

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

SCV000746374Genomic Research Center,Shahid Beheshti University of Medical Sciencescriteria provided, single submitter
Pathogenic
(Dec 3, 2017)
inheritedclinical testing

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

Description

FinDis database variant: This variant was not found or characterized by our laboratory, data were collected from public sources: see reference

SCV000082446

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedclinical testing
not providednot providednot providednot providednot providednot provided1not providedliterature only

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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM), SCV000082446.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot provided PubMed (1)

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

From Genomic Research Center,Shahid Beheshti University of Medical Sciences, SCV000746374.1

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

Last Updated: Sep 7, 2021

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