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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000897981	MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Oct 1, 2018)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] publication submitted

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000897981

MAGI'S LAB - Medical Genetics Laboratory, MAGI GROUP

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Oct 1, 2018)

germline

clinical testing

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

publication submitted

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
caucasian	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	caucasian	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

Last Updated: Oct 26, 2024

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