NM_024649.5(BBS1):c.46A>T (p.Ser16Cys) AND Bardet-Biedl syndrome

Clinical significance:Likely pathogenic (Last evaluated: Oct 1, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000782273.1

Allele description [Variation Report for NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)]

NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)

Gene:
BBS1:Bardet-Biedl syndrome 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.2
Genomic location:
Preferred name:
NM_024649.5(BBS1):c.46A>T (p.Ser16Cys)
HGVS:
  • NC_000011.10:g.66510705A>T
  • NG_009093.1:g.5058A>T
  • NG_032068.1:g.35297A>T
  • NM_024649.5:c.46A>TMANE SELECT
  • NP_078925.3:p.Ser16Cys
  • NC_000011.9:g.66278176A>T
Protein change:
S16C
Links:
dbSNP: rs772917364
NCBI 1000 Genomes Browser:
rs772917364
Molecular consequence:
  • NM_024649.5:c.46A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Bardet-Biedl syndrome (BBS)
Identifiers:
MONDO: MONDO:0015229; MedGen: C0752166; Orphanet: 110; OMIM: PS209900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000897982MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUPcriteria provided, single submitter
    Likely pathogenic
    (Oct 1, 2018)
    germlineclinical testing

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

    publication submitted

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    caucasiangermlineyesnot providednot providednot providednot providednot providedclinical testing

    Citations

    PubMed

    Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndrome.

    Mykytyn K, Nishimura DY, Searby CC, Shastri M, Yen HJ, Beck JS, Braun T, Streb LM, Cornier AS, Cox GF, Fulton AB, Carmi R, L├╝leci G, Chandrasekharappa SC, Collins FS, Jacobson SG, Heckenlively JR, Weleber RG, Stone EM, Sheffield VC.

    Nat Genet. 2002 Aug;31(4):435-8. Epub 2002 Jul 15.

    PubMed [citation]
    PMID:
    12118255

    Details of each submission

    From MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP, SCV000897982.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1caucasiannot providednot providednot providedclinical testing PubMed (1)
    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlineyesnot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Oct 7, 2021

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