NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Retinal dystrophy

Germline classification:: Pathogenic (4 submissions)
Last evaluated:: Jan 1, 2023
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV000210319.15

Allele description [Variation Report for NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)]

NM_024649.5(BBS1):c.1169T>G (p.Met390Arg)

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.1169T>G (p.Met390Arg)

Other names:

NP_078925.3:p.(Met390Arg)

HGVS:

NC_000011.10:g.66526181T>G
NG_009093.1:g.20534T>G
NM_001348571.2:c.*21+755A>C
NM_024649.5:c.1169T>GMANE SELECT
NM_024649.5:c.1169T>G
NP_078925.3:p.Met390Arg
NC_000011.9:g.66293652T>G
NM_024649.4:c.1169T>G
Q8NFJ9:p.Met390Arg

Protein change:

M390R; MET390ARG

Links:

UniProtKB: Q8NFJ9#VAR_017216; OMIM: 209901.0001; dbSNP: rs113624356

NCBI 1000 Genomes Browser:

rs113624356

Molecular consequence:

NM_001348571.2:c.*21+755A>C - intron variant - [Sequence Ontology: SO:0001627]
NM_024649.5:c.1169T>G - missense variant - [Sequence Ontology: SO:0001583]

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
SCV000259109	Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals	no assertion criteria provided	Pathogenic (Jan 30, 2015)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV000598856	NIHR Bioresource Rare Diseases, University of Cambridge	no assertion criteria provided	Likely pathogenic (Jan 1, 2015)	unknown	research	PubMed (2) [See all records that cite these PMIDs] 12118255, 28041643
SCV001239239	Blueprint Genetics	criteria provided, single submitter (Blueprint Genetics Variant Classification Scheme)	Pathogenic (Aug 15, 2019)	germline	clinical testing	Citation Link,
SCV005070796	Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Jan 1, 2023)	germline	clinical testing	PubMed (61) [See all records that cite these PMIDs] 12118255, 12677556, 18032602, 18766993, 20498079, 22940089, 23143442, 22581970, 22998390, 23565731, 23943788, 26022370, 25982971, 26325558, 27032803, 27788217, 28559085, 28838317, 30337596, 30142598, 29974258, 31589614, 30609409, 31028937, 30718709, 30614526, 31370859, 30484961, 32483926, 31964843, 31429209, 31980526, 33015405, 33169370, 31456290, 32581362, 32531858, 32037395, 33532864, 33910932, 34327195, 34940782, 34526762, 34906171, 34792930, 34448047, 34732400, 33749171, 34758253, 33369054, 33851411, 34716235, 35119454, 36460718, 35112343, 35886001, 35835773, 35695966, 35456422, 36819107, 25741868

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
European	unknown	yes	1	not provided	not provided	1	not provided	research

Citations

PubMed

Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Ellingford JM, Barton S, Bhaskar S, Williams SG, Sergouniotis PI, O'Sullivan J, Lamb JA, Perveen R, Hall G, Newman WG, Bishop PN, Roberts SA, Leach R, Tearle R, Bayliss S, Ramsden SC, Nemeth AH, Black GC.

Ophthalmology. 2016 May;123(5):1143-50. doi: 10.1016/j.ophtha.2016.01.009. Epub 2016 Feb 9.

PubMed [citation]

PMID:: 26872967
PMCID:: PMC4845717

Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Carss KJ, Arno G, Erwood M, Stephens J, Sanchis-Juan A, Hull S, Megy K, Grozeva D, Dewhurst E, Malka S, Plagnol V, Penkett C, Stirrups K, Rizzo R, Wright G, Josifova D, Bitner-Glindzicz M, Scott RH, Clement E, Allen L, Armstrong R, Brady AF, et al.

Am J Hum Genet. 2017 Jan 5;100(1):75-90. doi: 10.1016/j.ajhg.2016.12.003. Epub 2016 Dec 29.

PubMed [citation]

PMID:: 28041643
PMCID:: PMC5223092

See all PubMed Citations (63)

Details of each submission

From Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals, SCV000259109.1

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

#	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

From NIHR Bioresource Rare Diseases, University of Cambridge, SCV000598856.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	European	1	not provided	not provided	research	PubMed (2)

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

From Blueprint Genetics, SCV001239239.1

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

#	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

From Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg, SCV005070796.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (61)

#	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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