NM_024649.5(BBS1):c.830+350_1110+217del AND Bardet-Biedl syndrome 1

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 24, 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:: RCV001257323.11

Allele description [Variation Report for NM_024649.5(BBS1):c.830+350_1110+217del]

NM_024649.5(BBS1):c.830+350_1110+217del

Genes:

BBS1:Bardet-Biedl syndrome 1 [Gene - OMIM - HGNC]
ZDHHC24:zinc finger DHHC-type containing 24 [Gene - HGNC]

Variant type:

Deletion

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_024649.5(BBS1):c.830+350_1110+217del

HGVS:

NC_000011.10:g.66521726_66524099del
NG_009093.1:g.16079_18452del
NM_001348571.2:c.*22-2623_*22-250del
NM_024649.5:c.830+350_1110+217delMANE SELECT
NC_000011.9:g.66289197_66291570del

Molecular consequence:

NM_001348571.2:c.*22-2623_*22-250del - intron variant - [Sequence Ontology: SO:0001627]
NM_024649.5:c.830+350_1110+217del - splice acceptor variant - [Sequence Ontology: SO:0001574]
NM_024649.5:c.830+350_1110+217del - splice donor variant - [Sequence Ontology: SO:0001575]

Functional consequence:

exon loss [Variation Ontology: 0381]

Condition(s)

Name:: Bardet-Biedl syndrome 1 (BBS1)
Identifiers:: MONDO: MONDO:0008854; MedGen: C2936862; OMIM: 209900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001244295	Department of Neurology, Kindai University	no assertion criteria provided	Pathogenic (Mar 24, 2020)	unknown	case-control

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001244295

Department of Neurology, Kindai University

no assertion criteria provided

Pathogenic
(Mar 24, 2020)

unknown

case-control

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Japanese	unknown	yes	1	not provided	not provided	not provided	not provided	case-control

Details of each submission

From Department of Neurology, Kindai University, SCV001244295.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Japanese	1	not provided	not provided	case-control	not provided

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

Last Updated: Nov 10, 2024

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