NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) AND Inborn genetic diseases

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 10, 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:: RCV002534792.9

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)

Name:: Inborn genetic diseases
Identifiers:: MeSH: D030342; MedGen: C0950123

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV003601797	Ambry Genetics	criteria provided, single submitter (Ambry Variant Classification Scheme 2023)	Pathogenic (May 10, 2022)	germline	clinical testing	PubMed (5) [See all records that cite these PMIDs] 12677556, 17980398, 20177705, 21344540, 25988237 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV003601797

Ambry Genetics

criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)

Pathogenic
(May 10, 2022)

germline

clinical testing

PubMed (5)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

Genetic interaction of BBS1 mutations with alleles at other BBS loci can result in non-Mendelian Bardet-Biedl syndrome.

Beales PL, Badano JL, Ross AJ, Ansley SJ, Hoskins BE, Kirsten B, Mein CA, Froguel P, Scambler PJ, Lewis RA, Lupski JR, Katsanis N.

Am J Hum Genet. 2003 May;72(5):1187-99. Epub 2003 Apr 3.

PubMed [citation]

PMID:: 12677556
PMCID:: PMC1180271

Retinal morphology in patients with BBS1 and BBS10 related Bardet-Biedl Syndrome evaluated by Fourier-domain optical coherence tomography.

Gerth C, Zawadzki RJ, Werner JS, Héon E.

Vision Res. 2008 Feb;48(3):392-9. Epub 2007 Nov 5.

PubMed [citation]

PMID:: 17980398
PMCID:: PMC2584151

See all PubMed Citations (5)

Details of each submission

From Ambry Genetics, SCV003601797.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (5)

Description

The c.1447C>T (p.R483*) alteration, located in exon 14 (coding exon 14) of the BBS1 gene, consists of a C to T substitution at nucleotide position 1447. This changes the amino acid from an arginine (R) to a stop codon at amino acid position 483. This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. Based on data from gnomAD, the T allele has an overall frequency of 0.001% (3/240090) total alleles studied. The highest observed frequency was 0.003% (3/111230) of European (non-Finnish) alleles. This alteration has been detected in conjunction with another BBS1 pathogenic mutation in multiple individuals with features of BBS1-related Bardet-Biedl syndrome (Muller, 2010; Garth, 2008; Deveault, 2011; Kerr, 2016; Beales, 2003). Based on the available evidence, this alteration is classified as pathogenic.

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

Last Updated: Jan 13, 2025

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