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

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Jan 1, 2012
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:: RCV004818039.1

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:: Retinal dystrophy
Synonyms:: Inherited retinal dystrophy
Identifiers:: MONDO: MONDO:0019118; MeSH: D058499; MedGen: C0854723; Human Phenotype Ontology: HP:0000556

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV005072130	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2012)	germline	clinical testing	PubMed (6) [See all records that cite these PMIDs] 12677556, 25525159, 34940782, 35314707, 36460718, 25741868

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV005072130

Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Jan 1, 2012)

germline

clinical testing

PubMed (6)
[See all records that cite these PMIDs]

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

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

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]

PMID:: 25525159
PMCID:: PMC4362528

See all PubMed Citations (6)

Details of each submission

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005072130.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (6)

#	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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