NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly) AND Bardet-Biedl syndrome 1

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jan 11, 2017
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:: RCV000665087.10

Allele description [Variation Report for NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly)]

NM_024649.5(BBS1):c.1061A>G (p.Glu354Gly)

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.1061A>G (p.Glu354Gly)

HGVS:

NC_000011.10:g.66523833A>G
NG_009093.1:g.18186A>G
NM_001348571.2:c.*22-2367T>C
NM_024649.5:c.1061A>GMANE SELECT
NP_078925.3:p.Glu354Gly
NC_000011.9:g.66291304A>G
NM_024649.4:c.1061A>G

Protein change:

E354G

Links:

dbSNP: rs1555048530

NCBI 1000 Genomes Browser:

rs1555048530

Molecular consequence:

NM_001348571.2:c.*22-2367T>C - intron variant - [Sequence Ontology: SO:0001627]
NM_024649.5:c.1061A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Bardet-Biedl syndrome 1 (BBS1)
Identifiers:: MONDO: MONDO:0008854; MedGen: C2936862; OMIM: 209900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000789149	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Jan 11, 2017)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000789149

Counsyl

criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))

Uncertain significance
(Jan 11, 2017)

unknown

clinical testing

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

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Identification of Two Cases of Ciliopathy-Associated Diabetes and Their Mutation Analysis Using Whole Exome Sequencing.

Kim MK, Kwak SH, Kang S, Jung HS, Cho YM, Kim SY, Park KS.

Diabetes Metab J. 2015 Oct;39(5):439-43. doi: 10.4093/dmj.2015.39.5.439. Epub 2015 Oct 22.

PubMed [citation]

PMID:: 26566502
PMCID:: PMC4641974

Details of each submission

From Counsyl, SCV000789149.1

#	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	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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