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NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter) AND Bardet-Biedl syndrome 12

Germline classification:
Pathogenic (8 submissions)
Last evaluated:
Mar 16, 2024
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:
RCV000001206.16

Allele description [Variation Report for NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)]

NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)

Gene:
BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
4q27
Genomic location:
Preferred name:
NM_152618.3(BBS12):c.1063C>T (p.Arg355Ter)
HGVS:
  • NC_000004.12:g.122742955C>T
  • NG_021203.1:g.15254C>T
  • NM_001178007.2:c.1063C>T
  • NM_152618.3:c.1063C>TMANE SELECT
  • NP_001171478.1:p.Arg355Ter
  • NP_001171478.1:p.Arg355Ter
  • NP_689831.2:p.Arg355Ter
  • NC_000004.11:g.123664110C>T
  • NM_001178007.1:c.1063C>T
  • NM_152618.2:c.1063C>T
Protein change:
R355*; ARG355TER
Links:
OMIM: 610683.0001; dbSNP: rs121918327
NCBI 1000 Genomes Browser:
rs121918327
Molecular consequence:
  • NM_001178007.2:c.1063C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_152618.3:c.1063C>T - nonsense - [Sequence Ontology: SO:0001587]
Observations:
2

Condition(s)

Name:
Bardet-Biedl syndrome 12 (BBS12)
Identifiers:
MONDO: MONDO:0014440; MedGen: C1859570; Orphanet: 110; OMIM: 615989

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021356OMIM
no assertion criteria provided
Pathogenic
(Jan 1, 2007)
germlineliterature only

PubMed (1)
[See all records that cite this PMID]

SCV000680151Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München
criteria provided, single submitter

(Classification criteria August 2017)
Pathogenic
(Sep 8, 2017)
maternalclinical testing

Citation Link,

SCV001132342Counsyl
no assertion criteria provided
Pathogenic
(Nov 27, 2017)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001156389Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Feb 1, 2019)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001370443Centre for Mendelian Genomics, University Medical Centre Ljubljana
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Mar 20, 2019)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV001462013Natera, Inc.
no assertion criteria provided
Pathogenic
(Sep 16, 2020)
germlineclinical testing

SCV002814272Fulgent Genetics, Fulgent Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Apr 21, 2022)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

SCV004211673Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Pathogenic
(Mar 16, 2024)
unknownclinical testing

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedmaternalyes1not providednot provided1not providedclinical testing
not providedgermlineyes1not providednot providednot providednot providedclinical testing
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

Stoetzel C, Muller J, Laurier V, Davis EE, Zaghloul NA, Vicaire S, Jacquelin C, Plewniak F, Leitch CC, Sarda P, Hamel C, de Ravel TJ, Lewis RA, Friederich E, Thibault C, Danse JM, Verloes A, Bonneau D, Katsanis N, Poch O, Mandel JL, Dollfus H.

Am J Hum Genet. 2007 Jan;80(1):1-11. Epub 2006 Nov 15.

PubMed [citation]
PMID:
17160889
PMCID:
PMC1785304

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From OMIM, SCV000021356.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 2 consanguineous Gypsy families, not known to be related and partially settled in 2 different regions of France, with Bardet-Biedl syndrome (BBS12; 615989), Stoetzel et al. (2007) identified homozygosity for the same homozygous nonsense mutation in the BBS12 gene, 1062C-T, that resulted in an arg355-to-stop (R355X) substitution in the gene product.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München, SCV000680151.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyes1bloodnot provided1not providednot providednot provided

From Counsyl, SCV001132342.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Centre for Genomic Medicine, Manchester, Central Manchester University Hospitals, SCV001156389.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

From Centre for Mendelian Genomics, University Medical Centre Ljubljana, SCV001370443.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PVS1,PM2,PP5.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

From Natera, Inc., SCV001462013.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

From Fulgent Genetics, Fulgent Genetics, SCV002814272.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

From Baylor Genetics, SCV004211673.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024