NM_152618.3(BBS12):c.1616G>T (p.Gly539Val) AND Bardet-Biedl syndrome 12

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Dec 8, 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:: RCV000671131.1

Allele description [Variation Report for NM_152618.3(BBS12):c.1616G>T (p.Gly539Val)]

NM_152618.3(BBS12):c.1616G>T (p.Gly539Val)

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.1616G>T (p.Gly539Val)

HGVS:

NC_000004.12:g.122743508G>T
NG_021203.1:g.15807G>T
NM_001178007.2:c.1616G>T
NM_152618.3:c.1616G>TMANE SELECT
NP_001171478.1:p.Gly539Val
NP_689831.2:p.Gly539Val
NC_000004.11:g.123664663G>T
NM_152618.2:c.1616G>T

Protein change:

G539V

Links:

dbSNP: rs755314355

NCBI 1000 Genomes Browser:

rs755314355

Molecular consequence:

NM_001178007.2:c.1616G>T - missense variant - [Sequence Ontology: SO:0001583]
NM_152618.3:c.1616G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000796077	Counsyl	criteria provided, single submitter (Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))	Uncertain significance (Dec 8, 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

SCV000796077

Counsyl

criteria provided, single submitter

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

Uncertain significance
(Dec 8, 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

Risk Factors for Severe Renal Disease in Bardet-Biedl Syndrome.

Forsythe E, Sparks K, Best S, Borrows S, Hoskins B, Sabir A, Barrett T, Williams D, Mohammed S, Goldsmith D, Milford DV, Bockenhauer D, Foggensteiner L, Beales PL.

J Am Soc Nephrol. 2017 Mar;28(3):963-970. doi: 10.1681/ASN.2015091029. Epub 2016 Sep 22.

PubMed [citation]

PMID:: 27659767
PMCID:: PMC5328148

Details of each submission

From Counsyl, SCV000796077.1

#	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: Apr 7, 2025

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