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NM_024649.5(BBS1):c.1016A>T (p.His339Leu) AND Bardet-Biedl syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Oct 1, 2018
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:
RCV000782272.10

Allele description [Variation Report for NM_024649.5(BBS1):c.1016A>T (p.His339Leu)]

NM_024649.5(BBS1):c.1016A>T (p.His339Leu)

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.1016A>T (p.His339Leu)
HGVS:
  • NC_000011.10:g.66523788A>T
  • NG_009093.1:g.18141A>T
  • NM_001348571.2:c.*22-2322T>A
  • NM_024649.5:c.1016A>TMANE SELECT
  • NP_078925.3:p.His339Leu
  • NC_000011.9:g.66291259A>T
  • NM_024649.4:c.1016A>T
Protein change:
H339L
Links:
dbSNP: rs1389335279
NCBI 1000 Genomes Browser:
rs1389335279
Molecular consequence:
  • NM_001348571.2:c.*22-2322T>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_024649.5:c.1016A>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
SCV000897981MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(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, Lüleci 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, SCV000897981.1

#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 26, 2024