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NM_017777.4(MKS1):c.1273+1G>C AND Joubert syndrome 28

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 14, 2020
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:
RCV001548771.1

Allele description [Variation Report for NM_017777.4(MKS1):c.1273+1G>C]

NM_017777.4(MKS1):c.1273+1G>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_017777.4(MKS1):c.1273+1G>C
HGVS:
  • NC_000017.11:g.58207893C>G
  • NG_013032.1:g.16713G>C
  • NM_001321268.2:c.664+1G>C
  • NM_001321269.2:c.1273+1G>C
  • NM_001330397.2:c.1273+1G>C
  • NM_001411113.1:c.1273+1G>C
  • NM_017777.4:c.1273+1G>CMANE SELECT
  • LRG_687:g.16713G>C
  • NC_000017.10:g.56285254C>G
Links:
dbSNP: rs933577333
NCBI 1000 Genomes Browser:
rs933577333
Molecular consequence:
  • NM_001321268.2:c.664+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001321269.2:c.1273+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001330397.2:c.1273+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001411113.1:c.1273+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_017777.4:c.1273+1G>C - splice donor variant - [Sequence Ontology: SO:0001575]

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
SCV001768736Gene Discovery Core-Manton Center, Boston Children's Hospital
no assertion criteria provided
Pathogenic
(Feb 14, 2020) 		germlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Gene Discovery Core-Manton Center, Boston Children's Hospital, SCV001768736.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided

Description

This variant is interpreted as Pathogenic for Joubert syndrome; Autosomal Recessive. PVS1- Null variant (nonsense, frameshift, canonical splice sites, initiation codon, single or multiexon deletion) in a gene where LOF is a known mechanism of disease. PM2- Absent from controls (gnomad). PM3- For recessive disorders, detected in trans with a pathogenic variant. PP3- Multiple lines of computational evidence support a deleterious effect on the gene or gene product (conservation, evolutionary, splicing impact, etc.)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Mar 30, 2024