NM_001177701.3(IFT27):c.352+1G>T AND Bardet-Biedl syndrome 19

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jul 16, 2021
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:: RCV001537637.1

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]

Condition(s)

Name:: Bardet-Biedl syndrome 19 (BBS19)
Identifiers:: MONDO: MONDO:0014447; MedGen: C3889475; Orphanet: 110; OMIM: 615996

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001754537	OMIM	no assertion criteria provided	Pathogenic (Jul 16, 2021)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001754537

OMIM

no assertion criteria provided

Pathogenic
(Jul 16, 2021)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

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 OMIM, SCV001754537.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

For discussion of the IVS5+1G-T splice site mutation (c.349+1G-T, NM_006860.4) in the IFT27 gene that was found in compound heterozygous state in a patient with Bardet-Biedl syndrome-19 (BBS19; 615996) by Schaefer et al. (2019), see 615870.0002. The c.349+1G-T mutation is also designated c.352+1G-T based on NM_001177701.2.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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