NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) AND not provided

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Aug 16, 2022
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:: RCV003128709.8

Allele description [Variation Report for NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)]

NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)

Genes:

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

Variant type:

single nucleotide variant

Cytogenetic location:

11q13.2

Genomic location:

Preferred name:

NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter)

HGVS:

NC_000011.10:g.66529926C>T
NG_009093.1:g.24279C>T
NM_001348571.2:c.560-438G>A
NM_024649.5:c.1447C>TMANE SELECT
NP_078925.3:p.Arg483Ter
NC_000011.9:g.66297397C>T
NM_024649.4:c.1447C>T

Protein change:

R483*

Links:

dbSNP: rs745656125

NCBI 1000 Genomes Browser:

rs745656125

Molecular consequence:

NM_001348571.2:c.560-438G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_024649.5:c.1447C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Synonyms:: none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003805361	GeneDx	criteria provided, single submitter (GeneDx Variant Classification Process June 2021)	Pathogenic (Aug 16, 2022)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003805361

GeneDx

criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)

Pathogenic
(Aug 16, 2022)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From GeneDx, SCV003805361.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

Description

Identified with a second BBS1 variant in multiple individuals with clinical features of Bardet-Biedl syndrome in published literature (Gerth et al., 2008; Muller et al., 2010; Deveault et al., 2011; Jacobson et al., 2014; Grudzinska Pechhacker et al., 2021); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 17980398, 20177705, 25074776, 21344540, 12677556, 34940782)

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

Last Updated: Jan 13, 2025

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