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NM_001177701.3(IFT27):c.352+1G>T AND Bardet-Biedl syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 15, 2018
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000757977.2

Allele description [Variation Report for NM_001177701.3(IFT27):c.352+1G>T]

NM_001177701.3(IFT27):c.352+1G>T

Genes:
CACNG2-DT:CACNG2 divergent transcript [Gene - HGNC]
IFT27:intraflagellar transport 27 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
22q12.3
Genomic location:
Preferred name:
NM_001177701.3(IFT27):c.352+1G>T
HGVS:
  • NC_000022.11:g.36763918C>A
  • NG_034205.1:g.17216G>T
  • NM_001177701.3:c.352+1G>TMANE SELECT
  • NM_001363003.2:c.352+1G>T
  • NM_006860.5:c.349+1G>T
  • NC_000022.10:g.37159962C>A
  • NM_006860.4:c.349+1G>T
Nucleotide change:
IVS5, G-T, +1
Links:
OMIM: 615870.0003; dbSNP: rs780659194
NCBI 1000 Genomes Browser:
rs780659194
Molecular consequence:
  • NM_001177701.3:c.352+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_001363003.2:c.352+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
  • NM_006860.5:c.349+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Name:
Bardet-Biedl syndrome (BBS)
Identifiers:
MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000839872Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University
criteria provided, single submitter

(Schaefer et al. (Front Genet. 2019))		Pathogenic
(Sep 15, 2018) 		maternalclinical testing, research

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes1not providednot providednot providednot providedclinical testing, research

Citations

PubMed

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome.

Schaefer E, Delvallée C, Mary L, Stoetzel C, Geoffroy V, Marks-Delesalle C, Holder-Espinasse M, Ghoumid J, Dollfus H, Muller J.

Front Genet. 2019;10:21. doi: 10.3389/fgene.2019.00021.

PubMed [citation]
PMID:
30761183
PMCID:
PMC6363664

Details of each submission

From Laboratory of Medical Genetics (UMR_S 1112), INSERM/Strasbourg University, SCV000839872.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
2not providednot providednot providednot providedresearch PubMed (1)

Description

Mutation affecting splicing (functional study in submitter's publication)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided1not providednot providednot provided
2maternalyesnot providedskin fibroblastnot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024